Varaico: Literature-Extracted Genetic Variants

Gene:HLA-DRB1
Variant:p.A14_L15delFs

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
Selected Variant
2 papers
NM_002124.4
p.A14_L15delFs
c.42_43delGC
Surrounding Variants
3 papers
NM_002124.4
p.L15L
c.43C>T
5 papers
NM_002124.4
p.A14A
c.42G>T
1 paper
NM_002124.4
p.A14delins
c.41_42delinsTT
1 paper
NM_002124.4
p.T13_A14delins
c.37_42delinsGCAGTT
2 papers
NM_002124.4
p.T13_A14delins
c.37_42delinsGCAGCT
9 papers
NM_002124.4
p.A14V
c.41C>T
1 paper
NM_002124.4
p.T16I
c.47C>T
1 paper
NM_002124.4
p.A14G
c.41C>G
2 papers
NM_002124.4
p.A14P
c.40G>C
1 paper
NM_002124.4
p.A14T
c.40G>A
1 paper
NM_002124.4
p.V17L
c.49G>T
2 papers
NM_002124.4
p.V17_T18insG
c.49_53ins3
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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."