Varaico: Literature-Extracted Genetic Variants

Gene:HLA-DQA1
Variant:p.S119P

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.S119P
c.355T>C
Surrounding Variants
1 paper
NM_002122.5
p.S119F
c.356C>T
1 paper
NM_002122.5
p.T116_F118del0
c.346_354del9
1 paper
NM_002122.5
p.T124A
c.370A>G
1 paper
NM_002122.5
p.E111Splc
c.332-3C>T
3 papers
NM_002122.5
p.P128H
c.383C>A
10 papers
NM_002122.5
p.T130I
c.389C>T
1 paper
NM_002122.5
p.I132I
c.396T>C
1 paper
NM_002122.5
p.V143A
c.428T>C
1 paper
NM_002122.5
p.T146T
c.438A>C
1 paper
NM_002122.5
p.L148P
c.443T>C
1 paper
NM_002122.5
p.L148Fs
c.444delinsATTTCATAFs
8 papers
NM_002122.5
p.Q152H
c.456G>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."