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

6 papers

NM_002124.4

p.Q99H

c.297G>C

Surrounding Variants

6 papers

NM_002124.4

p.Q99H

c.297G>T

6 papers

NM_002124.4

p.Q99fs

c.295_296fs

2 papers

NM_002124.4

p.Q99_A100insFs

c.297_298insAA

1 paper

NM_002124.4

p.A100Fs

c.298delinsAAGFs

7 papers

NM_002124.4

p.A100T

c.298G>A

1 paper

NM_002124.4

p.A100fs

c.298_299fs

7 papers

NM_002124.4

p.Q99R

c.296A>G

1 paper

NM_002124.4

p.Q99Fs

c.296delinsGGAFs

2 papers

NM_002124.4

p.E98_Q99delFs

c.294_295delGC

5 papers

NM_002124.4

p.Q99fs

c.295_296fs

6 papers

NM_002124.4

p.A100G

c.299C>G

6 papers

NM_002124.4

p.Q99E

c.295C>G