Varaico: Literature-Extracted Genetic Variants

HLA-DRB5

201 papers

RefSeq Summary

HLA-DRB5 belongs to the HLA class II beta chain paralogues. This class II molecule is a heterodimer consisting of an alpha (DRA) and a beta (DRB) chain, both anchored in the membrane. It plays a centr...

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 5

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_002125.4

p.D99E

c.297C>A

Surrounding Variants

2 papers

NM_002125.4

p.D99E

c.297C>G

2 papers

NM_002125.4

p.D99_R100insFs

c.297_298insGG

5 papers

NM_002125.4

p.D99fs

c.295_296fs

2 papers

NM_002125.4

p.D99insFs

c.296_297insAG

2 papers

NM_002125.4

p.D99delFs

c.296delT

1 paper

NM_002125.4

p.D99delFs

c.295_296delTC

2 papers

NM_002125.4

p.R100fs

c.298_299fs

4 papers

NM_002125.4

p.R100G

c.298A>G

3 papers

NM_002125.4

p.D99delFs

c.297delG

1 paper

NM_002125.4

p.D99H

c.295G>C

3 papers

NM_002125.4

p.R100K

c.299G>A

1 paper

NM_002125.4

p.E98delFs

c.294delT