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.R109delFs

c.326_327delTC

Surrounding Variants

1 paper

NM_002125.4

p.R109fs

c.325_326fs

3 papers

NM_002125.4

p.Y107*

c.321C>G

3 papers

NM_002125.4

p.Y107*

c.321C>A

1 paper

NM_002125.4

p.Y107delins

c.319_321delinsGTG

1 paper

NM_002125.4

p.Y112S

c.335A>C

1 paper

NM_002125.4

p.Y107F

c.320A>T

2 papers

NM_002125.4

p.Y107D

c.319T>G

1 paper

NM_002125.4

p.T106T

c.318C>T

9 papers

NM_002125.4

p.T106N

c.317C>A

1 paper

NM_002125.4

p.V114_G115ins4

c.340_344ins12

1 paper

NM_002125.4

p.V114A

c.341T>C

9 papers

NM_002125.4

p.G115V

c.344G>T