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.T80T

c.240G>T

Surrounding Variants

1 paper

NM_002124.4

p.E81Q

c.241G>C

1 paper

NM_002124.4

p.E81K

c.241G>A

1 paper

NM_002124.4

p.T80M

c.239C>T

12 papers

NM_002124.4

p.T80R

c.239C>G

2 papers

NM_002124.4

p.E81V

c.242A>T

3 papers

NM_002124.4

p.T80A

c.238A>G

1 paper

NM_002124.4

p.L82V

c.244C>G

1 paper

NM_002124.4

p.A78A

c.234G>A

2 papers

NM_002124.4

p.A78V

c.233C>T

1 paper

NM_002124.4

p.A78E

c.233C>A

7 papers

NM_002124.4

p.R77Q

c.230G>A

1 paper

NM_002124.4

p.G83delFs

c.247delC