Varaico: Literature-Extracted Genetic Variants

Gene:GIGYF1
Variant:p.G529D

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.G529D
c.1586G>A
Surrounding Variants
1 paper
NM_001375765.1
p.L509L
c.1525C>T
1 paper
NM_001375765.1
p.E497E
c.1491G>A
1 paper
NM_001375765.1
p.E497*
c.1489G>T
1 paper
NM_001375765.1
p.E497K
c.1489G>A
1 paper
NM_001375765.1
p.A496fs
c.1486_1487fs
2 papers
NM_001375765.1
p.E494_M495insFs
c.1481_1485dup5
1 paper
NM_001375765.1
p.A496fs
c.1486_1487fs
2 papers
NM_001375765.1
p.M495Fs
c.1485delinsAGATGGFs
1 paper
NM_001375765.1
p.M495insFs
c.1484_1485ins5
2 papers
NM_001375765.1
p.M495fs
c.1483_1484fs
1 paper
NM_001375765.1
p.Q493R
c.1478A>G
1 paper
NM_001375765.1
p.T491M
c.1472C>T
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