Varaico: Literature-Extracted Genetic Variants

Gene:FCHO1
Variant:p.E470G

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.E470G
c.1409A>G
Surrounding Variants
1 paper
NM_015122.3
p.D478N
c.1432G>A
1 paper
NM_015122.3
p.W492S
c.1475G>C
1 paper
NM_015122.3
p.F449Y
c.1346T>A
1 paper
NM_015122.3
p.F436fs
c.1306_1307fs
1 paper
NM_015122.3
p.L435_F436delFs
c.1305_1306delCT
1 paper
NM_015122.3
p.E423G
c.1268A>G
1 paper
NM_015122.3
p.A370T
c.1108G>A
1 paper
NM_015122.3
p.D550N
c.1648G>A
1 paper
NM_015122.3
p.P354L
c.1061C>T
1 paper
NM_015122.3
p.F349L
c.1047C>A
1 paper
NM_015122.3
p.F349L
c.1047C>G
1 paper
NM_015122.3
p.F349L
c.1045T>C
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