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1 protein found in SwissVar (110 variants)

with gene/protein name P07949

Disclaimer: The query results are intended for research purposes only, not for clinical and diagnostic use.

Accession Entry name Disease Variants 3D mapping
(variant position)
P07949 RET_HUMAN colorectal cancer p.Gly593Glu

P07949 RET_HUMAN hirschsprung disease 1 p.Pro20Leu
p.Ser32Leu
p.Leu40Pro
p.Pro64Leu
p.Arg77Cys
p.Gly93Ser
p.Arg114His
p.Arg114Cys
p.Cys142Ser
p.Val145Gly
p.Pro155Leu
p.Cys157Tyr
p.Phe174Ser
p.Arg175Pro
p.Arg180Pro
p.Cys197Tyr
p.Arg231His
p.Glu251Lys
p.Thr278Ala
p.Thr278Pro
p.Arg287Gln
p.Asp300Asn
p.Arg313Gln
p.Ser316Ile
p.Arg330Gln
p.Ser339Leu
p.Asp353Tyr
p.Asn359Lys
p.Arg360Trp
p.Arg360Gln
p.Phe393Leu
p.Asn394Lys
p.Val397Met
p.Pro399Leu
p.Val412Met
p.Gly423Arg
p.Arg475Gln
p.Glu480Lys
p.Glu595Gln
p.Cys609Trp
p.Cys609Tyr
p.Cys618Arg
p.Cys618Ser
p.Cys620Trp
p.Cys620Arg
p.Gln626Lys
p.Pro679Leu
p.Ser690Pro
p.Arg694Gln
p.Glu762Gln
p.Ser765Pro
p.Ser767Arg
p.Asn783Ser
p.Tyr791Phe
p.Arg813Gln
p.Gly830Arg
p.Arg873Gln
p.Phe893Leu
p.Arg897Gln
p.Lys907Thr
p.Lys907Glu
p.Glu921Lys
p.Phe961Leu
p.Arg972Gly
p.Pro973Leu
p.Met980Thr
p.Leu1052Val
p.Leu1061Pro
p.Tyr1062Cys
p.Met1064Thr






































































P07949 RET_HUMAN medullary thyroid carcinoma p.Cys609Tyr
p.Cys611Trp
p.Cys611Gly
p.Cys618Ser
p.Cys618Tyr
p.Cys618Arg
p.Cys618Phe
p.Cys620Gly
p.Cys620Arg
p.Cys620Phe
p.Cys620Ser
p.Cys630Tyr
p.Cys630Phe
p.Cys630Ser
p.Cys634Ser
p.Cys634Trp
p.Cys634Tyr
p.Cys634Arg
p.Ala639Gly
p.Ala641Gly
p.Glu768Asp
p.Leu790Phe
p.Tyr791Phe
p.Val804Leu
p.Val804Met
p.Arg844Leu
p.Ser891Ala
p.Met918Thr
p.Ser922Phe
p.Thr946Met






























P07949 RET_HUMAN multiple neoplasia 2b p.Ala883Phe
p.Met918Thr
p.Thr946Met



P07949 RET_HUMAN pheochromocytoma p.Cys634Tyr
p.Cys634Phe
p.Cys634Gly
p.Cys634Arg
p.Cys634Ser
p.Cys634Trp
p.Tyr791Phe







P07949 RET_HUMAN multiple neoplasia 2a p.Cys609Tyr
p.Cys609Arg
p.Cys609Gly
p.Cys611Arg
p.Cys611Tyr
p.Cys611Ser
p.Cys611Trp
p.Cys618Phe
p.Cys618Arg
p.Cys618Tyr
p.Cys618Ser
p.Cys618Gly
p.Cys620Ser
p.Cys620Tyr
p.Cys620Phe
p.Cys620Trp
p.Cys620Arg
p.Cys620Gly
p.Cys630Phe
p.Cys634Arg
p.Cys634Tyr
p.Cys634Phe
p.Cys634Ser
p.Cys634Trp
p.Cys634Gly
p.Ala640Gly
p.Leu790Phe
p.Tyr791Phe




























P07949 RET_HUMAN papillary thyroid carcinomas
P07949 RET_HUMAN renal agenesis suggesting
P07949 RET_HUMAN congenital central hypoventilation syndrome p.Arg67His
p.Arg114His
p.Ala432Glu
p.Pro1039Leu