Varaico: Literature-Extracted Genetic Variants

Gene:FCHSD1
Variant:p.Y523*

FCHSD1

51 papers

Pfam Domains

FCHaa 21–102UCSCFes/CIP4, and EFC/F-BAR homology domain
SH3_9aa 475–525UCSCVariant SH3 domain
SH3_9aa 553–605UCSCVariant SH3 domain

Gene Aliases

HGNC Name

FCH and double SH3 domains 1

HGNC Alias Symbol

FLJ00007

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_033449.3
p.Y523*
c.1569T>G
Surrounding Variants
1 paper
NM_033449.3
p.Y523*
c.1569T>A
1 paper
NM_033449.3
p.S530Y
c.1589C>A
1 paper
NM_033449.3
p.N540D
c.1618A>G
1 paper
NM_033449.3
p.F567L
c.1699T>C
1 paper
NM_033449.3
p.F567L
c.1701C>G
1 paper
NM_033449.3
p.F567L
c.1701C>A
1 paper
NM_033449.3
p.L572F
c.1714C>T
1 paper
NM_033449.3
p.R483C
c.1447C>T
1 paper
NM_033449.3
p.G586G
c.1758C>T
1 paper
NM_033449.3
p.V596A
c.1787T>C
1 paper
NM_033449.3
p.P600H
c.1799C>A
1 paper
NM_033449.3
p.S601F
c.1802C>T
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