Varaico: Literature-Extracted Genetic Variants

Gene:HLA-DQA2
Variant:p.E56G

HLA-DQA2

245 papers

RefSeq Summary

This gene belongs to the HLA class II alpha chain family. The encoded protein forms a heterodimer with a class II beta chain. It is located in intracellular vesicles and plays a central role in the pe...

Pfam Domains

MHC_II_alphaaa 29–109UCSCClass II histocompatibility antigen, alpha domain
C1-setaa 115–196UCSCImmunoglobulin C1-set domain

Gene Aliases

HGNC Name

major histocompatibility complex, class II, DQ alpha 2

HGNC Previous Symbol

HLA-DXA

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_020056.5
p.E56G
c.167A>G
Surrounding Variants
1 paper
NM_020056.5
p.E57Q
c.169G>C
1 paper
NM_020056.5
p.G54E
c.161G>A
1 paper
NM_020056.5
p.H50L
c.149A>T
1 paper
NM_020056.5
p.H50Y
c.148C>T
4 papers
NM_020056.5
p.E63G
c.188A>G
6 papers
NM_020056.5
p.T49S
c.146C>G
5 papers
NM_020056.5
p.T49S
c.145A>T
7 papers
NM_020056.5
p.Y48F
c.143A>T
4 papers
NM_020056.5
p.T64R
c.191C>G
3 papers
NM_020056.5
p.T64M
c.191C>T
1 paper
NM_020056.5
p.G46G
c.138C>T
1 paper
NM_020056.5
p.E66insFs
c.198dupG
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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."