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.T18R

c.53C>G

Surrounding Variants

1 paper

NM_002124.4

p.T18K

c.53C>A

4 papers

NM_002124.4

p.L19L

c.55C>T

1 paper

NM_002124.4

p.L19_M20insTGG

c.55_59ins9

1 paper

NM_002124.4

p.L19Q

c.56T>A

2 papers

NM_002124.4

p.T18delFs

c.53_54delTG

1 paper

NM_002124.4

p.V17L

c.49G>T

2 papers

NM_002124.4

p.V17_T18insG

c.49_53ins3

2 papers

NM_002124.4

p.V17M

c.49G>A

10 papers

NM_002124.4

p.M20T

c.59T>C

1 paper

NM_002124.4

p.L19_M20delins

c.55_59delinsTTGAC

1 paper

NM_002124.4

p.T16I

c.47C>T

1 paper

NM_002124.4

p.M20I

c.60G>T