Varaico: Literature-Extracted Genetic Variants

Gene:FCHSD1
Variant:p.Q227*

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.Q227*
c.679C>T
Surrounding Variants
1 paper
NM_033449.3
p.N214_A217delFs
c.642_651del10
1 paper
NM_033449.3
p.Q202R
c.605A>G
1 paper
NM_033449.3
p.A195T
c.583G>A
1 paper
NM_033449.3
p.H254H
c.762C>T
1 paper
NM_033449.3
p.E256A
c.767A>C
1 paper
NM_033449.3
p.Q281K
c.841C>A
1 paper
NM_033449.3
p.K192N
c.576G>T
1 paper
NM_033449.3
p.K192N
c.576G>C
1 paper
NM_033449.3
p.L186P
c.557T>C
2 papers
NM_033449.3
p.R183W
c.547C>T
1 paper
NM_033449.3
p.H181Y
c.541C>T
1 paper
NM_033449.3
p.R156H
c.467G>A
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