Varaico: Literature-Extracted Genetic Variants

Gene:HLA-DRB1

HLA-DRB1

592 papers

RefSeq Summary

HLA-DRB1 belongs to the HLA class II beta chain paralogs. The class II molecule is a heterodimer consisting of an alpha (DRA) and a beta chain (DRB), both anchored in the membrane. It plays a central ...

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 1

HGNC Previous Symbol

HLA-DR1B

Papers
RefSeq ID
Protein change
DNA change
1–12 of 604 variants
15 papers
NM_002124.4
p.A169T
c.505G>A
13 papers
NM_002124.4
p.V67A
c.200T>C
13 papers
NM_002124.4
p.T106N
c.317C>A
12 papers
NM_002124.4
p.K5R
c.14A>G
12 papers
NM_002124.4
p.T80R
c.239C>G
12 papers
NM_002124.4
p.S133A
c.397T>G
11 papers
NM_002124.4
p.Q39*
c.115C>T
11 papers
NM_002124.4
p.Q178H
c.534G>C
10 papers
NM_002124.4
p.M20T
c.59T>C
10 papers
NM_002124.4
p.S66Y
c.197C>A
10 papers
NM_002124.4
p.V115G
c.344T>G
10 papers
NM_002124.4
p.T135N
c.404C>A
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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."