Varaico: Literature-Extracted Genetic Variants

Gene:FCHO1
Variant:p.Q749delins

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.Q749delins
c.2245_2246delinsAC
Surrounding Variants
1 paper
NM_015122.3
p.W759R
c.2275T>A
1 paper
NM_015122.3
p.W759R
c.2275T>C
1 paper
NM_015122.3
p.T783T
c.2349A>G
1 paper
NM_015122.3
p.N800T
c.2399A>C
1 paper
NM_015122.3
p.V801I
c.2401G>A
1 paper
NM_015122.3
p.P805T
c.2413C>A
1 paper
NM_015122.3
p.N728T
c.2183A>C
1 paper
NM_015122.3
p.E706fs
c.2116_2117fs
1 paper
NM_015122.3
p.E706_T718delFs
c.2118_2152del35
2 papers
NM_015122.3
p.N692N
c.2076C>T
4 papers
NM_015122.3
p.R679P
c.2036G>C
2 papers
NM_015122.3
p.V675fs
c.2023_2024fs
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