Varaico: Literature-Extracted Genetic Variants

Gene:HLA-DQA2
Variant:p.G247D

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.G247D
c.740G>A
Surrounding Variants
1 paper
NM_020056.5
p.R244H
c.731G>A
11 papers
NM_020056.5
p.Q241R
c.722A>G
3 papers
NM_020056.5
p.L254P
c.761T>C
1 paper
NM_020056.5
p.L254_L255delins
c.761_765delinsCCTTG
1 paper
NM_020056.5
p.L255L
c.763T>C
3 papers
NM_020056.5
p.F238L
c.714C>A
6 papers
NM_020056.5
p.F238L
c.714C>G
3 papers
NM_020056.5
p.F238L
c.712T>C
1 paper
NM_020056.5
p.T236T
c.708T>C
1 paper
NM_020056.5
p.G235G
c.705C>G
2 papers
NM_020056.5
p.G235_V237del3
c.703_710del9
1 paper
NM_020056.5
p.V233M
c.697G>A
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