Varaico: Literature-Extracted Genetic Variants

Gene:GIGYF1
Variant:p.H649_T650Fs

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.H649_T650Fs
c.1947_1948delinsAFs
Surrounding Variants
1 paper
NM_001375765.1
p.H649fs
c.1945_1946fs
1 paper
NM_001375765.1
p.D647E
c.1941C>G
1 paper
NM_001375765.1
p.D647E
c.1941C>A
1 paper
NM_001375765.1
p.Q655fs
c.1963_1964fs
1 paper
NM_001375765.1
p.L645F
c.1933C>T
1 paper
NM_001375765.1
p.R644H
c.1931G>A
1 paper
NM_001375765.1
p.Q655Fs
c.1963_1965delinsGFs
1 paper
NM_001375765.1
p.G657Splc
c.1969+1G>T
1 paper
NM_001375765.1
p.D641H
c.1921G>C
1 paper
NM_001375765.1
p.S638*
c.1913C>A
2 papers
NM_001375765.1
p.L629_P631del3
c.1885_1892del9
1 paper
NM_001375765.1
p.Q617R
c.1850A>G
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