Varaico: Literature-Extracted Genetic Variants

Gene:GIGYF1
Variant:p.E210_G211del1

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
2 papers
NM_001375765.1
p.E210_G211del1
c.629_631delCCT
Surrounding Variants
1 paper
NM_001375765.1
p.S212fs
c.634_635fs
1 paper
NM_001375765.1
p.E210_G211del2
c.628_632del6
1 paper
NM_001375765.1
p.S212fs
c.634_635fs
1 paper
NM_001375765.1
p.L215L
c.645C>T
1 paper
NM_001375765.1
p.Q205del1
c.613_614delCTG
2 papers
NM_001375765.1
p.E203delFs
c.608_609delCT
2 papers
NM_001375765.1
p.S212_P219delFs
c.634_655del22
2 papers
NM_001375765.1
p.R221*
c.661C>T
1 paper
NM_001375765.1
p.G223fs
c.667_668fs
1 paper
NM_001375765.1
p.R221_G223insFs
c.663_667dup5
1 paper
NM_001375765.1
p.R199C
c.595C>T
1 paper
NM_001375765.1
p.D224insFs
c.670_671ins5
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