Varaico: Literature-Extracted Genetic Variants

Gene:GIGYF1
Variant:p.K391_E392Fs

GIGYF1

101 papers

RefSeq Summary

This gene encodes a member of the gyf family of adaptor proteins. The encoded protein contains a gyf protein interaction domain. It binds growth factor receptor bound 10, another adaptor protein that ...

Pfam Domains

GYFaa 477–521UCSCGYF domain

Gene Aliases

HGNC Name

GRB10 interacting GYF protein 1

HGNC Previous Symbol

PERQ1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001375765.1
p.K391_E392Fs
c.1172_1176delinsGFs
Surrounding Variants
1 paper
NM_001375765.1
p.E392K
c.1174G>A
1 paper
NM_001375765.1
p.K391fs
c.1171_1172fs
3 papers
NM_001375765.1
p.G380_D386delFs
c.1140_1156del17
1 paper
NM_001375765.1
p.T381fs
c.1141_1142fs
2 papers
NM_001375765.1
p.T381fs
c.1141_1142fs
1 paper
NM_001375765.1
p.P358Q
c.1073C>A
1 paper
NM_001375765.1
p.G414Fs
c.1240delinsTGCTGFs
1 paper
NM_001375765.1
p.G414fs
c.1240_1241fs
1 paper
NM_001375765.1
p.A413_G414insFs
c.1239_1240ins4
1 paper
NM_001375765.1
p.P416L
c.1247C>T
1 paper
NM_001375765.1
p.E420K
c.1258G>A
1 paper
NM_001375765.1
p.Q430_E431Splc
c.1291-1G>A
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