Varaico: Literature-Extracted Genetic Variants

Gene:HLA-DQA2
Variant:p.V220_C221insTC

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
2 papers
NM_020056.5
p.V220_C221insTC
c.658_662ins6
Surrounding Variants
2 papers
NM_020056.5
p.L219V
c.655T>G
1 paper
NM_020056.5
p.C221C
c.663C>T
6 papers
NM_020056.5
p.A222T
c.664G>A
1 paper
NM_020056.5
p.E217_T218del2
c.649_653del6
1 paper
NM_020056.5
p.G224A
c.671G>C
1 paper
NM_020056.5
p.S213S
c.639A>G
1 paper
NM_020056.5
p.M212I
c.636G>A
1 paper
NM_020056.5
p.V227A
c.680T>C
1 paper
NM_020056.5
p.V227V
c.681G>A
1 paper
NM_020056.5
p.G228V
c.683G>T
1 paper
NM_020056.5
p.A210A
c.630C>A
5 papers
NM_020056.5
p.M230V
c.688A>G
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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."