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.C44F

c.131G>T

Surrounding Variants

1 paper

NM_002124.4

p.C44G

c.130T>G

1 paper

NM_002124.4

p.C44R

c.130T>C

1 paper

NM_002124.4

p.C44*

c.132T>A

2 papers

NM_002124.4

p.R42_E43del2

c.124_128del6

3 papers

NM_002124.4

p.E43fs

c.127_128fs

1 paper

NM_002124.4

p.E43E

c.129G>A

2 papers

NM_002124.4

p.H45Y

c.133C>T

2 papers

NM_002124.4

p.R42_E43del1

c.125_127delCCC

5 papers

NM_002124.4

p.H45Q

c.135T>A

1 paper

NM_002124.4

p.E43K

c.127G>A

3 papers

NM_002124.4

p.E43fs

c.127_128fs

3 papers

NM_002124.4

p.R42S

c.126G>T