Varaico: Literature-Extracted Genetic Variants

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.S196fs

c.586_587fs

Surrounding Variants

3 papers

NM_002124.4

p.S196delFs

c.587delC

4 papers

NM_002124.4

p.S196N

c.587G>A

1 paper

NM_002124.4

p.S196fs

c.586_587fs

6 papers

NM_002124.4

p.G197A

c.590G>C

1 paper

NM_002124.4

p.R195_G197delins

c.584_590delinsAGAATGC

3 papers

NM_002124.4

p.R195R

c.585A>G

2 papers

NM_002124.4

p.R195fs

c.583_584fs

2 papers

NM_002124.4

p.R195delins

c.584_585delinsAG

3 papers

NM_002124.4

p.R195Q

c.584G>A

1 paper

NM_002124.4

p.E198fs

c.592_593fs

2 papers

NM_002124.4

p.R195*

c.583C>T

3 papers

NM_002124.4

p.R195_S196insC

c.583_587ins3