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.L37_D40delins

c.109_119delinsCTGTGGCAGGG

Surrounding Variants

4 papers

NM_002125.4

p.D40V

c.119A>T

4 papers

NM_002125.4

p.D40G

c.119A>G

5 papers

NM_002125.4

p.D40A

c.119A>C

1 paper

NM_002125.4

p.D40Y

c.118G>T

2 papers

NM_002125.4

p.D40H

c.118G>C

3 papers

NM_002125.4

p.Q39H

c.117G>T

1 paper

NM_002125.4

p.Q39fs

c.115_116fs

4 papers

NM_002125.4

p.Q39H

c.117G>C

2 papers

NM_002125.4

p.Q39L

c.116A>T

3 papers

NM_002125.4

p.K41T

c.122A>C

1 paper

NM_002125.4

p.K41K

c.123G>A

1 paper

NM_002125.4

p.Q39fs

c.115_116fs