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.C202C

c.606C>T

Surrounding Variants

5 papers

NM_002125.4

p.V204L

c.610G>T

4 papers

NM_002125.4

p.V204L

c.610G>C

1 paper

NM_002125.4

p.V199_Y200insCC

c.595_599ins6

1 paper

NM_002125.4

p.E191_G197delFs

c.573_591del19

5 papers

NM_002125.4

p.G197A

c.590G>C

2 papers

NM_002125.4

p.G197_E198insG

c.589_593ins3

2 papers

NM_002125.4

p.S196fs

c.586_587fs

2 papers

NM_002125.4

p.S196delFs

c.587delC

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.S196N

c.587G>A