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.A100fs

c.298_299fs

Surrounding Variants

1 paper

NM_002124.4

p.A100_R101insFs

c.300_301insAG

3 papers

NM_002124.4

p.R101fs

c.301_302fs

3 papers

NM_002124.4

p.R101W

c.301C>T

6 papers

NM_002124.4

p.A100G

c.299C>G

2 papers

NM_002124.4

p.R101G

c.301C>G

8 papers

NM_002124.4

p.A100E

c.299C>A

1 paper

NM_002124.4

p.Q99_A100delins

c.296_299delinsGGAG

1 paper

NM_002124.4

p.A100_R101Fs

c.298_301delinsAAGCGFs

1 paper

NM_002124.4

p.R101L

c.302G>T

1 paper

NM_002124.4

p.R101insFs

c.302_303insA

1 paper

NM_002124.4

p.A100Fs

c.298delinsAAGFs

1 paper

NM_002124.4

p.R101P

c.302G>C