Varaico: Literature-Extracted Genetic Variants

Gene:FCHO1
Variant:p.Y635S

FCHO1

68 papers

Pfam Domains

GMIP-like_FCHaa 13–260UCSCGEM-interacting protein-like, FCH domain
FCHaa 15–87UCSCFes/CIP4, and EFC/F-BAR homology domain
muHDaa 626–888UCSCMuniscin C-terminal mu homology domain

Gene Aliases

HGNC Name

FCH and mu domain containing endocytic adaptor 1

HGNC Alias Symbol

KIAA0290

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_015122.3
p.Y635S
c.1904A>C
Surrounding Variants
1 paper
NM_015122.3
p.A631G
c.1892C>G
1 paper
NM_015122.3
p.G642G
c.1926C>T
1 paper
NM_015122.3
p.V619I
c.1855G>A
1 paper
NM_015122.3
p.D550N
c.1648G>A
4 papers
NM_015122.3
p.R650*
c.1948C>T
1 paper
NM_015122.3
p.R650Q
c.1949G>A
1 paper
NM_015122.3
p.R665H
c.1994G>A
4 papers
NM_015122.3
p.V675insFs
c.2023_2024insG
2 papers
NM_015122.3
p.V675fs
c.2023_2024fs
4 papers
NM_015122.3
p.R679P
c.2036G>C
2 papers
NM_015122.3
p.N692N
c.2076C>T
1 paper
NM_015122.3
p.E706_T718delFs
c.2118_2152del35
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