Varaico: Literature-Extracted Genetic Variants

Gene:GIGYF2
Variant:p.M48I

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
1 paper
NM_001103146.3
p.M48I
c.144G>T
Surrounding Variants
1 paper
NM_001103146.3
p.M48I
c.144G>A
1 paper
NM_001103146.3
p.M48I
c.144G>C
1 paper
NM_001103146.3
p.A50V
c.149C>T
2 papers
NM_001103146.3
p.E46K
c.136G>A
1 paper
NM_001103146.3
p.L53F
c.157C>T
1 paper
NM_001103146.3
p.Y43*
c.129C>A
1 paper
NM_001103146.3
p.Y43*
c.129C>G
1 paper
NM_001103146.3
p.Y43Y
c.129C>T
1 paper
NM_001103146.3
p.R42P
c.125G>C
22 papers
NM_001103146.3
p.N56S
c.167A>G
1 paper
NM_001103146.3
p.K57_I58Splc
c.171+2T>A
4 papers
NM_001103146.3
p.L38I
c.112T>A
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."