Varaico: Literature-Extracted Genetic Variants

Gene:HLA-DQA2
Variant:p.S167R

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.S167R
c.499A>C
Surrounding Variants
1 paper
NM_020056.5
p.F171L
c.511T>C
2 papers
NM_020056.5
p.G157S
c.469G>A
1 paper
NM_020056.5
p.L177L
c.531C>T
1 paper
NM_020056.5
p.T155K
c.464C>A
1 paper
NM_020056.5
p.E156del1
c.466_467delGAA
7 papers
NM_020056.5
p.F179L
c.535T>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.V154_T155delFs
c.462_463delCA
1 paper
NM_020056.5
p.V154I
c.460G>A
1 paper
NM_020056.5
p.L180P
c.539T>C
2 papers
NM_020056.5
p.S153A
c.457T>G
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