Varaico: Literature-Extracted Genetic Variants

Gene:FCHO1
Variant:p.R40Splc

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
4 papers
NM_015122.3
p.R40Splc
c.120-1G>C
Surrounding Variants
1 paper
NM_015122.3
p.E44K
c.130G>A
1 paper
NM_015122.3
p.E45*
c.133G>T
1 paper
NM_015122.3
p.P63insFs
c.189dupC
1 paper
NM_015122.3
p.T62N
c.185C>A
1 paper
NM_015122.3
p.M64fs
c.190_191fs
1 paper
NM_015122.3
p.R38W
c.112C>T
3 papers
NM_015122.3
p.A34P
c.100G>C
1 paper
NM_015122.3
p.F16S
c.47T>C
1 paper
NM_015122.3
p.N13S
c.38A>G
4 papers
NM_015122.3
p.G65Splc
c.195-2A>C
1 paper
NM_015122.3
p.P69Q
c.206C>A
1 paper
NM_015122.3
p.H85R
c.254A>G
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."