Varaico: Literature-Extracted Genetic Variants

Gene:GIGYF1
Variant:p.E549G

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.E549G
c.1646A>G
Surrounding Variants
1 paper
NM_001375765.1
p.A559V
c.1676C>T
1 paper
NM_001375765.1
p.Q570L
c.1709A>T
1 paper
NM_001375765.1
p.Q573Q
c.1719G>A
1 paper
NM_001375765.1
p.S577Splc
c.1731-1G>A
1 paper
NM_001375765.1
p.G529D
c.1586G>A
1 paper
NM_001375765.1
p.P581R
c.1742C>G
1 paper
NM_001375765.1
p.A584T
c.1750G>A
1 paper
NM_001375765.1
p.D593Y
c.1777G>T
1 paper
NM_001375765.1
p.L509L
c.1525C>T
1 paper
NM_001375765.1
p.Q604*
c.1810C>T
4 papers
NM_001375765.1
p.Q608_L609del1
c.1823_1825delGCT
2 papers
NM_001375765.1
p.Q608_L609del2
c.1822_1826del6
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