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

12 papers

NM_002124.4

p.S133A

c.397T>G

Surrounding Variants

1 paper

NM_002124.4

p.S133P

c.397T>C

1 paper

NM_002124.4

p.V130_S133delins

c.390_397delinsGTATCCTG

6 papers

NM_002124.4

p.S133L

c.398C>T

1 paper

NM_002124.4

p.V130_S133delins

c.390_398delinsGTATCCTTT

1 paper

NM_002124.4

p.S133S

c.399A>C

1 paper

NM_002124.4

p.S133delins

c.397_399delinsGCC

1 paper

NM_002124.4

p.K134fs

c.400_401fs

6 papers

NM_002124.4

p.K134Fs

c.402delinsAGFs

2 papers

NM_002124.4

p.K134K

c.402G>A

4 papers

NM_002124.4

p.T135fs

c.403_404fs

7 papers

NM_002124.4

p.T135A

c.403A>G

1 paper

NM_002124.4

p.T135P

c.403A>C