Varaico: Literature-Extracted Genetic Variants

HLA-DQB1

300 papers

RefSeq Summary

HLA-DQB1 belongs to the HLA class II beta chain paralogs. This class II molecule is a heterodimer consisting of an alpha (DQA) and a beta chain (DQB), both anchored in the membrane. It plays a central...

Pfam Domains

MHC_II_betaaa 45–118UCSCClass II histocompatibility antigen, beta domain

C1-setaa 131–212UCSCImmunoglobulin C1-set domain

Gene Aliases

HGNC Name

major histocompatibility complex, class II, DQ beta 1

HGNC Alias Symbols

IDDM1; CELIAC1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_002123.5

p.L123L

c.367T>C

Surrounding Variants

4 papers

NM_002123.5

p.I122T

c.365T>C

1 paper

NM_002123.5

p.G121_I122delins

c.361_365delinsACGAC

6 papers

NM_002123.5

p.G121A

c.362G>C

5 papers

NM_002123.5

p.G121R

c.361G>C

5 papers

NM_002123.5

p.G121R

c.361G>A

1 paper

NM_002123.5

p.R125R

c.373A>C

1 paper

NM_002123.5

p.R120G

c.358C>G

1 paper

NM_002123.5

p.R126R

c.376A>C

5 papers

NM_002123.5

p.F119L

c.357C>G

5 papers

NM_002123.5

p.F119L

c.357C>A

5 papers

NM_002123.5

p.F119Y

c.356T>A

5 papers

NM_002123.5

p.F119L

c.355T>C