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

5 papers

NM_002124.4

p.V114A

c.341T>C

Surrounding Variants

10 papers

NM_002124.4

p.V115G

c.344T>G

2 papers

NM_002124.4

p.G113A

c.338G>C

2 papers

NM_002124.4

p.V115V

c.345G>T

2 papers

NM_002124.4

p.V115delins

c.344_345delinsGT

1 paper

NM_002124.4

p.Y112Y

c.336C>T

1 paper

NM_002124.4

p.Y112F

c.335A>T

1 paper

NM_002124.4

p.Y112C

c.335A>G

1 paper

NM_002124.4

p.Y112S

c.335A>C

1 paper

NM_002124.4

p.Y112H

c.334T>C

2 papers

NM_002124.4

p.S117R

c.349A>C

3 papers

NM_002124.4

p.S117_F118insTA

c.349_353ins6

1 paper

NM_002124.4

p.N111S

c.332A>G