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

1 paper

NM_002125.4

p.T186T

c.558C>T

Surrounding Variants

1 paper

NM_002125.4

p.T186T

c.558C>A

1 paper

NM_002125.4

p.T186delins

c.557_558delinsTT

2 papers

NM_002125.4

p.T186I

c.557C>T

4 papers

NM_002125.4

p.V188M

c.562G>A

1 paper

NM_002125.4

p.D181D

c.543C>T

1 paper

NM_002125.4

p.D181Y

c.541G>T

1 paper

NM_002125.4

p.T192fs

c.574_575fs

2 papers

NM_002125.4

p.Q178H

c.534G>T

2 papers

NM_002125.4

p.Q178H

c.534G>C

1 paper

NM_002125.4

p.R195insFs

c.583_584insA

1 paper

NM_002125.4

p.R195fs

c.583_584fs

1 paper

NM_002125.4

p.R195Fs

c.584delinsAGFs