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.E51G

c.152A>G

Surrounding Variants

1 paper

NM_002124.4

p.R52R

c.156G>A

1 paper

NM_002124.4

p.V53G

c.158T>G

1 paper

NM_002124.4

p.V53E

c.158T>A

1 paper

NM_002124.4

p.G49A

c.146G>C

1 paper

NM_002124.4

p.G49R

c.145G>C

1 paper

NM_002124.4

p.G49R

c.145G>A

1 paper

NM_002124.4

p.N48N

c.144T>C

1 paper

NM_002124.4

p.R54W

c.160C>T

1 paper

NM_002124.4

p.R54L

c.161G>T

1 paper

NM_002124.4

p.R54P

c.161G>C

1 paper

NM_002124.4

p.R54Q

c.161G>A

1 paper

NM_002124.4

p.N48I

c.143A>T