SWISSVAR
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1 protein found in SwissVar (31 variants)

with gene/protein name O15360

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)
O15360 FANCA_HUMAN fanconi anemia, complementation group a p.Asn8Lys
p.Ala181Val
p.Leu210Arg
p.Leu244Phe
p.Asp252Gly
p.Arg435Cys
p.His492Arg
p.Asp598Asn
p.Leu660Pro
p.Leu817Pro
p.Tyr843Asp
p.Leu845Pro
p.Ser858Arg
p.Gln869Pro
p.Arg1055Leu
p.Arg1055Trp
p.Leu1082Pro
p.Ser1088Phe
p.His1110Pro
p.Arg1117Gly
p.Gln1128Glu
p.Thr1131Ala
p.Leu1249Pro
p.Phe1262Leu
p.Trp1302Arg
p.Pro1324Leu
p.Ala1346Thr
p.Asp1359Tyr
p.Met1360Ile
p.Arg1400His
p.His1417Asp