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

3 papers

NM_002125.4

p.F96L

c.288C>G

Surrounding Variants

3 papers

NM_002125.4

p.F96L

c.288C>A

3 papers

NM_002125.4

p.F96L

c.286T>C

6 papers

NM_002125.4

p.F96I

c.286T>A

4 papers

NM_002125.4

p.E98insFs

c.293_294insGC

1 paper

NM_002125.4

p.E98Fs

c.294delinsGCAFs

2 papers

NM_002125.4

p.E98fs

c.292_293fs

1 paper

NM_002125.4

p.D99H

c.295G>C

1 paper

NM_002125.4

p.E98delFs

c.294delT

4 papers

NM_002125.4

p.D99fs

c.295_296fs

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