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

7 papers

NM_002123.5

p.D12G

c.35A>G

Surrounding Variants

2 papers

NM_002123.5

p.P10P

c.30C>T

3 papers

NM_002123.5

p.V15A

c.44T>C

1 paper

NM_002123.5

p.V15V

c.45A>G

3 papers

NM_002123.5

p.T17A

c.49A>G

1 paper

NM_002123.5

p.L7S

c.20T>C

1 paper

NM_002123.5

p.L7insFs

c.19_20insG

2 papers

NM_002123.5

p.A6S

c.16G>T

1 paper

NM_002123.5

p.V18V

c.54C>T

1 paper

NM_002123.5

p.V18V

c.54C>G

1 paper

NM_002123.5

p.K4K

c.12G>A

1 paper

NM_002123.5

p.W3insFs

c.8_9insTA

2 papers

NM_002123.5

p.A23S

c.67G>T