Varaico: Literature-Extracted Genetic Variants

Gene:GIGYF1
Variant:p.R165Q

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.R165Q
c.494G>A
Surrounding Variants
1 paper
NM_001375765.1
p.G174fs
c.520_521fs
1 paper
NM_001375765.1
p.G174delFs
c.521delC
1 paper
NM_001375765.1
p.A175Splc
c.523+78C>T
1 paper
NM_001375765.1
p.A175Splc
c.524-3C>T
2 papers
NM_001375765.1
p.R192C
c.574C>T
1 paper
NM_001375765.1
p.D159delFs
c.475delC
1 paper
NM_001375765.1
p.W158*
c.474G>A
1 paper
NM_001375765.1
p.W158*
c.473G>A
1 paper
NM_001375765.1
p.R199C
c.595C>T
1 paper
NM_001375765.1
p.E151insFs
c.451_452insG
1 paper
NM_001375765.1
p.E151fs
c.451_452fs
2 papers
NM_001375765.1
p.E203delFs
c.608_609delCT
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."