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.D59V

c.176A>T

Surrounding Variants

1 paper

NM_002125.4

p.D59G

c.176A>G

2 papers

NM_002125.4

p.D59Y

c.175G>T

2 papers

NM_002125.4

p.D59H

c.175G>C

1 paper

NM_002125.4

p.I60fs

c.178_179fs

2 papers

NM_002125.4

p.I60F

c.178A>T

4 papers

NM_002125.4

p.I60insFs

c.178_179insCT

2 papers

NM_002125.4

p.H57_R58delFs

c.171_172delTG

1 paper

NM_002125.4

p.I60fs

c.178_179fs

1 paper

NM_002125.4

p.R58G

c.172A>G

2 papers

NM_002125.4

p.Y61H

c.181T>C

3 papers

NM_002125.4

p.H57Q

c.171C>G

1 paper

NM_002125.4

p.H57fs

c.169_170fs