Varaico: Literature-Extracted Genetic Variants

Gene:HLA-DQA1
Variant:p.P72H

HLA-DQA1

221 papers

RefSeq Summary

HLA-DQA1 belongs to the HLA class II alpha chain paralogues. The class II molecule is a heterodimer consisting of an alpha (DQA) and a beta chain (DQB), both anchored in the membrane. It plays a centr...

Gene Aliases

HGNC Name

major histocompatibility complex, class II, DQ alpha 1

HGNC Alias Symbol

CELIAC1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_002122.5
p.P72H
c.215C>A
Surrounding Variants
1 paper
NM_002122.5
p.E73delFs
c.217_218delGA
1 paper
NM_002122.5
p.E73Q
c.217G>C
2 papers
NM_002122.5
p.E73fs
c.217_218fs
1 paper
NM_002122.5
p.E73fs
c.217_218fs
2 papers
NM_002122.5
p.E73V
c.218A>T
3 papers
NM_002122.5
p.W71L
c.212G>T
1 paper
NM_002122.5
p.F74fs
c.220_221fs
2 papers
NM_002122.5
p.F74insFs
c.220_221insTC
1 paper
NM_002122.5
p.R70Q
c.209G>A
1 paper
NM_002122.5
p.R70W
c.208C>T
1 paper
NM_002122.5
p.R70_G79delins
c.208_237delinsTGTTTGCCTGTTCTCAGACAATTTAGA
2 papers
NM_002122.5
p.S75R
c.223A>C
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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."