Varaico: Literature-Extracted Genetic Variants

Gene:FCHSD1
Variant:p.A441A

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.A441A
c.1323T>G
Surrounding Variants
1 paper
NM_033449.3
p.S444C
c.1331C>G
2 papers
NM_033449.3
p.D445fs
c.1333_1334fs
1 paper
NM_033449.3
p.E450Q
c.1348G>C
1 paper
NM_033449.3
p.T452M
c.1355C>T
1 paper
NM_033449.3
p.R483C
c.1447C>T
1 paper
NM_033449.3
p.Y523*
c.1569T>G
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.R423Q
c.1268G>A
1 paper
NM_033449.3
p.F567L
c.1699T>C
1 paper
NM_033449.3
p.F567L
c.1701C>G
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