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

3 papers

NM_002124.4

p.Q39delFs

c.115delG

Surrounding Variants

2 papers

NM_002124.4

p.Q39L

c.116A>T

1 paper

NM_002124.4

p.Q39P

c.116A>C

4 papers

NM_002124.4

p.Q39H

c.117G>T

3 papers

NM_002124.4

p.Q39fs

c.115_116fs

3 papers

NM_002124.4

p.Q39_P40insFs

c.117_118insTA

4 papers

NM_002124.4

p.Q39H

c.117G>C

1 paper

NM_002124.4

p.Q39fs

c.115_116fs

11 papers

NM_002124.4

p.Q39*

c.115C>T

1 paper

NM_002124.4

p.Q39K

c.115C>A

4 papers

NM_002124.4

p.P40fs

c.118_119fs

1 paper

NM_002124.4

p.W38fs

c.112_113fs

5 papers

NM_002124.4

p.W38*

c.114G>A