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.R54delFs

c.162delC

Surrounding Variants

3 papers

NM_002124.4

p.F55L

c.163T>C

2 papers

NM_002124.4

p.F55I

c.163T>A

4 papers

NM_002124.4

p.V53_R54del0

c.157_162del6

1 paper

NM_002124.4

p.F55fs

c.163_164fs

1 paper

NM_002124.4

p.F55S

c.164T>C

6 papers

NM_002124.4

p.F55Y

c.164T>A

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

3 papers

NM_002124.4

p.F55L

c.165C>G

3 papers

NM_002124.4

p.F55L

c.165C>A

1 paper

NM_002124.4

p.R54W

c.160C>T