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.V158F

c.472G>T

Surrounding Variants

1 paper

NM_002124.4

p.I156T

c.467T>C

1 paper

NM_002124.4

p.I156V

c.466A>G

1 paper

NM_002124.4

p.S155I

c.464G>T

1 paper

NM_002124.4

p.G154_S155delFs

c.462_463delTG

1 paper

NM_002124.4

p.G154V

c.461G>T

2 papers

NM_002124.4

p.G154A

c.461G>C

1 paper

NM_002124.4

p.Y152_G154delins

c.455_461delinsGTCCAGC

1 paper

NM_002124.4

p.G154S

c.460G>A

2 papers

NM_002124.4

p.L162L

c.484C>T

9 papers

NM_002124.4

p.L162R

c.485T>G

4 papers

NM_002124.4

p.L162Q

c.485T>A

1 paper

NM_002124.4

p.P153S

c.457C>T