Varaico: Literature-Extracted Genetic Variants

Gene:GIGYF1
Variant:p.L613_Q615del3

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.L613_Q615del3
c.1837_1844del9
Surrounding Variants
1 paper
NM_001375765.1
p.Q617R
c.1850A>G
2 papers
NM_001375765.1
p.Q608_L609del2
c.1822_1826del6
4 papers
NM_001375765.1
p.Q608_L609del1
c.1823_1825delGCT
1 paper
NM_001375765.1
p.Q604*
c.1810C>T
1 paper
NM_001375765.1
p.D593Y
c.1777G>T
1 paper
NM_001375765.1
p.A584T
c.1750G>A
1 paper
NM_001375765.1
p.P581R
c.1742C>G
1 paper
NM_001375765.1
p.S577Splc
c.1731-1G>A
2 papers
NM_001375765.1
p.L629_P631del3
c.1885_1892del9
1 paper
NM_001375765.1
p.S638*
c.1913C>A
1 paper
NM_001375765.1
p.D641H
c.1921G>C
1 paper
NM_001375765.1
p.R644H
c.1931G>A
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