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.P7S

c.19C>T

Surrounding Variants

1 paper

NM_002124.4

p.P7insFs

c.19_20insG

1 paper

NM_002124.4

p.P7ins1

c.19_20insTGG

2 papers

NM_002124.4

p.L6fs

c.16_17fs

2 papers

NM_002124.4

p.L6insFs

c.17_18insG

5 papers

NM_002124.4

p.L6P

c.17T>C

1 paper

NM_002124.4

p.P7delFs

c.19delG

1 paper

NM_002124.4

p.G8R

c.22G>A

7 papers

NM_002124.4

p.L6F

c.16C>T

1 paper

NM_002124.4

p.K5N

c.15G>T

1 paper

NM_002124.4

p.K5K

c.15G>A

12 papers

NM_002124.4

p.K5R

c.14A>G

1 paper

NM_002124.4

p.L4_K5delins

c.10_14delinsTTGAG