Varaico: Literature-Extracted Genetic Variants

Gene:HLA-DRB5
Variant:p.V124Splc

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.V124Splc
c.370+1G>A
Surrounding Variants
2 papers
NM_002125.4
p.V124Splc
c.370+7A>G
2 papers
NM_002125.4
p.V124Splc
c.370+8T>C
1 paper
NM_002125.4
p.R122R
c.364C>A
2 papers
NM_002125.4
p.V124Splc
c.370+10G>T
1 paper
NM_002125.4
p.V124Splc
c.370+11T>C
1 paper
NM_002125.4
p.T119T
c.357A>G
2 papers
NM_002125.4
p.G115G
c.345T>G
1 paper
NM_002125.4
p.G115delins
c.344_345delinsTG
1 paper
NM_002125.4
p.V114_G115delins
c.341_345delinsCTGTG
9 papers
NM_002125.4
p.G115V
c.344G>T
1 paper
NM_002125.4
p.V114A
c.341T>C
1 paper
NM_002125.4
p.V114_G115ins4
c.340_344ins12
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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."