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.K41T

c.122A>C

Surrounding Variants

1 paper

NM_002124.4

p.K41N

c.123G>T

2 papers

NM_002124.4

p.K41_R42ins1

c.123_124insTAT

1 paper

NM_002124.4

p.K41N

c.123G>C

4 papers

NM_002124.4

p.P40_K41delFs

c.118_122del5

1 paper

NM_002124.4

p.K41E

c.121A>G

3 papers

NM_002124.4

p.P40fs

c.118_119fs

7 papers

NM_002124.4

p.R42W

c.124A>T

1 paper

NM_002124.4

p.R42G

c.124A>G

1 paper

NM_002124.4

p.R42_E43insS

c.124_128ins3

1 paper

NM_002124.4

p.R42M

c.125G>T

5 papers

NM_002124.4

p.R42T

c.125G>C

3 papers

NM_002124.4

p.R42K

c.125G>A