Varaico: Literature-Extracted Genetic Variants

Gene:HLA-DQA2
Variant:p.I186S

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
6 papers
NM_020056.5
p.I186S
c.557T>G
Surrounding Variants
5 papers
NM_020056.5
p.D184E
c.552T>A
7 papers
NM_020056.5
p.D184E
c.552T>G
1 paper
NM_020056.5
p.C189delFs
c.565delT
3 papers
NM_020056.5
p.A183D
c.548C>A
1 paper
NM_020056.5
p.L180P
c.539T>C
5 papers
NM_020056.5
p.F179L
c.537C>A
5 papers
NM_020056.5
p.F179L
c.537C>G
1 paper
NM_020056.5
p.H193Y
c.577C>T
1 paper
NM_020056.5
p.H193L
c.578A>T
7 papers
NM_020056.5
p.F179L
c.535T>C
1 paper
NM_020056.5
p.L177L
c.531C>T
2 papers
NM_020056.5
p.D197D
c.591C>T
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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."