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

8 papers

NM_002125.4

p.P212L

c.635C>T

Surrounding Variants

5 papers

NM_002125.4

p.P212A

c.634C>G

1 paper

NM_002125.4

p.T210T

c.630G>A

5 papers

NM_002125.4

p.T214insFs

c.640_641insTG

4 papers

NM_002125.4

p.T214fs

c.640_641fs

2 papers

NM_002125.4

p.T210M

c.629C>T

1 paper

NM_002125.4

p.V209_T210delins

c.625_629delinsATGAT

2 papers

NM_002125.4

p.T214fs

c.640_641fs

2 papers

NM_002125.4

p.V209V

c.627G>A

4 papers

NM_002125.4

p.V209L

c.625G>T

5 papers

NM_002125.4

p.V209L

c.625G>C

3 papers

NM_002125.4

p.V209M

c.625G>A

3 papers

NM_002125.4

p.E216Q

c.646G>C