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

1 paper

NM_002124.4

p.Q185K

c.553C>A

Surrounding Variants

1 paper

NM_002124.4

p.T183T

c.549C>T

2 papers

NM_002124.4

p.T183N

c.548C>A

1 paper

NM_002124.4

p.T186T

c.558C>A

1 paper

NM_002124.4

p.L187P

c.560T>C

1 paper

NM_002124.4

p.W182G

c.544T>G

2 papers

NM_002124.4

p.V188M

c.562G>A

1 paper

NM_002124.4

p.V188G

c.563T>G

1 paper

NM_002124.4

p.D181D

c.543C>T

1 paper

NM_002124.4

p.D181H

c.541G>C

1 paper

NM_002124.4

p.M189insFs

c.565_566insC

1 paper

NM_002124.4

p.G180E

c.539G>A

4 papers

NM_002124.4

p.L190L

c.570G>A