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.G164S

c.490G>A

Surrounding Variants

1 paper

NM_002124.4

p.G164R

c.490G>C

1 paper

NM_002124.4

p.G164V

c.491G>T

7 papers

NM_002124.4

p.N163N

c.489C>T

1 paper

NM_002124.4

p.N163K

c.489C>G

1 paper

NM_002124.4

p.N163K

c.489C>A

1 paper

NM_002124.4

p.L162_N163delins

c.485_489delinsGGAAT

2 papers

NM_002124.4

p.L162_N163delins

c.485_489delinsAGAAT

3 papers

NM_002124.4

p.E157_L162del6

c.469_485del18

9 papers

NM_002124.4

p.L162R

c.485T>G

4 papers

NM_002124.4

p.L162Q

c.485T>A

1 paper

NM_002124.4

p.E166K

c.496G>A

2 papers

NM_002124.4

p.L162L

c.484C>T