Varaico: Literature-Extracted Genetic Variants

Gene:HLA-DRB5
Variant:p.Q39fs

HLA-DRB5

201 papers

RefSeq Summary

HLA-DRB5 belongs to the HLA class II beta chain paralogues. This class II molecule is a heterodimer consisting of an alpha (DRA) and a beta (DRB) chain, both anchored in the membrane. It plays a centr...

Pfam Domains

MHC_II_betaaa 42–116UCSCClass II histocompatibility antigen, beta domain
C1-setaa 128–209UCSCImmunoglobulin C1-set domain

Gene Aliases

HGNC Name

major histocompatibility complex, class II, DR beta 5

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_002125.4
p.Q39fs
c.115_116fs
Surrounding Variants
3 papers
NM_002125.4
p.Q39*
c.115C>T
1 paper
NM_002125.4
p.Q39E
c.115C>G
1 paper
NM_002125.4
p.Q39Fs
c.115delinsTACTCFs
1 paper
NM_002125.4
p.Q38_Q39insFs
c.114_115ins4
2 papers
NM_002125.4
p.Q39L
c.116A>T
3 papers
NM_002125.4
p.Q39H
c.117G>T
1 paper
NM_002125.4
p.Q39fs
c.115_116fs
4 papers
NM_002125.4
p.Q39H
c.117G>C
2 papers
NM_002125.4
p.Q38R
c.113A>G
1 paper
NM_002125.4
p.D40Y
c.118G>T
2 papers
NM_002125.4
p.D40H
c.118G>C
2 papers
NM_002125.4
p.Q38*
c.112C>T
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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."