Varaico: Literature-Extracted Genetic Variants

Gene:FCHO1
Variant:p.R153M

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.R153M
c.458G>T
Surrounding Variants
1 paper
NM_015122.3
p.R152Q
c.455G>A
1 paper
NM_015122.3
p.E149*
c.445G>T
3 papers
NM_015122.3
p.K163_A164Splc
c.489+1G>A
1 paper
NM_015122.3
p.E115G
c.344A>G
1 paper
NM_015122.3
p.C113F
c.338G>T
2 papers
NM_015122.3
p.R177C
c.529C>T
3 papers
NM_015122.3
p.R186Q
c.557G>A
1 paper
NM_015122.3
p.S196S
c.588A>C
1 paper
NM_015122.3
p.R199C
c.595C>T
1 paper
NM_015122.3
p.M211V
c.631A>G
1 paper
NM_015122.3
p.E234V
c.701A>T
1 paper
NM_015122.3
p.R250K
c.749G>A
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