Varaico: Literature-Extracted Genetic Variants

HLA-DRB1

592 papers

RefSeq Summary

HLA-DRB1 belongs to the HLA class II beta chain paralogs. The class II molecule is a heterodimer consisting of an alpha (DRA) and a beta chain (DRB), both anchored in the membrane. It plays a central ...

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 1

HGNC Previous Symbol

HLA-DR1B

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_002124.4

p.V67delFs

c.199delC

Surrounding Variants

13 papers

NM_002124.4

p.V67A

c.200T>C

1 paper

NM_002124.4

p.V67E

c.200T>A

1 paper

NM_002124.4

p.S66_V67delins

c.197_200delinsACGC

4 papers

NM_002124.4

p.V67L

c.199G>T

1 paper

NM_002124.4

p.V67fs

c.199_200fs

3 papers

NM_002124.4

p.V67L

c.199G>C

2 papers

NM_002124.4

p.V67V

c.201G>A

1 paper

NM_002124.4

p.S66_V67delins

c.197_199delinsTCC

1 paper

NM_002124.4

p.R68C

c.202C>T

1 paper

NM_002124.4

p.S66S

c.198C>T

1 paper

NM_002124.4

p.R68G

c.202C>G

2 papers

NM_002124.4

p.S66fs

c.196_197fs