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

1–12 of 357 variants

9 papers

NM_002125.4

p.T106N

c.317C>A

9 papers

NM_002125.4

p.G115V

c.344G>T

8 papers

NM_002125.4

p.P212L

c.635C>T

7 papers

NM_002125.4

p.K14N

c.42G>T

7 papers

NM_002125.4

p.S24F

c.71C>T

7 papers

NM_002125.4

p.D70N

c.208G>A

7 papers

NM_002125.4

p.D86V

c.257A>T

7 papers

NM_002125.4

p.A103fs

c.307_308fs

6 papers

NM_002125.4

p.K14E

c.40A>G

6 papers

NM_002125.4

p.K14N

c.42G>C

6 papers

NM_002125.4

p.L67V

c.199T>G

6 papers

NM_002125.4

p.F96I

c.286T>A