Varaico: Literature-Extracted Genetic Variants

Gene:HLA-DQA1
Variant:p.G54E

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.G54E
c.161G>A
Surrounding Variants
1 paper
NM_002122.5
p.D55_Q57delins
c.165_169delinsCGAGG
8 papers
NM_002122.5
p.Q57E
c.169C>G
1 paper
NM_002122.5
p.H50Y
c.148C>T
3 papers
NM_002122.5
p.T49S
c.146C>G
3 papers
NM_002122.5
p.T49S
c.145A>T
1 paper
NM_002122.5
p.Y59Y
c.177C>T
4 papers
NM_002122.5
p.Y48F
c.143A>T
1 paper
NM_002122.5
p.Q47K
c.139C>A
4 papers
NM_002122.5
p.E63G
c.188A>G
2 papers
NM_002122.5
p.R64K
c.191G>A
1 paper
NM_002122.5
p.E66insFs
c.198dupG
1 paper
NM_002122.5
p.T67fs
c.199_200fs
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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."