Varaico: Literature-Extracted Genetic Variants

Gene:GIGYF2
Variant:p.P1210P

GIGYF2

313 papers

RefSeq Summary

This gene contains CAG trinucleotide repeats and encodes a protein containing several stretches of polyglutamine residues. The encoded protein may be involved in the regulation of tyrosine kinase rece...

Pfam Domains

GYFaa 536–580UCSCGYF domain

Gene Aliases

HGNC Name

GRB10 interacting GYF protein 2

HGNC Previous Symbols

PERQ2; PERQ3; TNRC15; PARK11

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
7 papers
NM_001103146.3
p.P1210P
c.3630A>G
Surrounding Variants
5 papers
NM_001103146.3
p.Q1211_Q1212ins1
c.3633_3634insCAG
NM_001103147.2
p.P1210_Q1211ins1
c.3630_3631insCAG
2 papers
NM_001103146.3
p.Q1216_P1217ins2
c.3648_3649ins6
NM_001103147.2
p.P1231_Q1232ins2
c.3693_3694ins6
1 paper
NM_001103146.3
p.P1210_Q1211insFs
c.3630_3631ins4
9 papers
NM_001103147.2
p.Q1232del1
c.3694_3695delCAG
NM_001103146.3
p.Q1211del1
c.3631_3632delCAG
1 paper
NM_001103147.2
p.Q1232ins1
c.3694_3695insCAG
1 paper
NM_001103147.2
p.Q1232ins2
c.3694_3695ins6
1 paper
NM_001103146.3
p.P1210ins1
c.3629_3630insGCA
1 paper
NM_001103147.2
p.Q1232fs
c.3694_3695fs
15 papers
NM_001103147.2
p.P1231_Q1232del1
c.3693_3695delACA
NM_001103146.3
p.P1210_Q1211del1
c.3630_3632delACA
1 paper
NM_001103146.3
p.P1210_Q1212del0
c.3630_3635del6
1 paper
NM_001103146.3
p.Q1211fs
c.3631_3632fs
1 paper
NM_001103147.2
p.P1231insFs
c.3692_3693insGC
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