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.H141H

c.423C>T

Surrounding Variants

1 paper

NM_002124.4

p.H141Q

c.423C>G

1 paper

NM_002124.4

p.H141Y

c.421C>T

1 paper

NM_002124.4

p.H140Q

c.420C>G

1 paper

NM_002124.4

p.L143F

c.427C>T

1 paper

NM_002124.4

p.L143L

c.429C>T

1 paper

NM_002124.4

p.C146S

c.436T>A

1 paper

NM_002124.4

p.C146S

c.437G>C

4 papers

NM_002124.4

p.Q136fs

c.406_407fs

6 papers

NM_002124.4

p.C146C

c.438C>T

1 paper

NM_002124.4

p.C146W

c.438C>G

6 papers

NM_002124.4

p.Q136delFs

c.406delG

3 papers

NM_002124.4

p.Q136fs

c.406_407fs