Varaico: Literature-Extracted Genetic Variants

Gene:GIGYF1
Variant:p.R126C

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.R126C
c.376C>T
Surrounding Variants
1 paper
NM_001375765.1
p.R147*
c.439C>T
1 paper
NM_001375765.1
p.R147ins1
c.440_441insGCT
1 paper
NM_001375765.1
p.E151fs
c.451_452fs
1 paper
NM_001375765.1
p.E151insFs
c.451_452insG
1 paper
NM_001375765.1
p.W158*
c.473G>A
1 paper
NM_001375765.1
p.W158*
c.474G>A
1 paper
NM_001375765.1
p.D159delFs
c.475delC
1 paper
NM_001375765.1
p.R124*
c.370C>T
1 paper
NM_001375765.1
p.R116R
c.346C>A
1 paper
NM_001375765.1
p.L111delFs
c.333delC
2 papers
NM_001375765.1
p.L111fs
c.331_332fs
4 papers
NM_001375765.1
p.L111delFs
c.332delA
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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."