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

1 paper

NM_002123.5

p.S136F

c.407C>T

Surrounding Variants

1 paper

NM_002123.5

p.V131V

c.393G>A

1 paper

NM_002123.5

p.H143Q

c.429C>G

1 paper

NM_002123.5

p.H143Q

c.429C>A

1 paper

NM_002123.5

p.E128E

c.384G>A

1 paper

NM_002123.5

p.H144R

c.431A>G

3 papers

NM_002123.5

p.V148I

c.442G>A

1 paper

NM_002123.5

p.S150S

c.450G>A

3 papers

NM_002123.5

p.G157S

c.469G>A

5 papers

NM_002123.5

p.G157A

c.470G>C

2 papers

NM_002123.5

p.Q158H

c.474G>T

3 papers

NM_002123.5

p.Q158H

c.474G>C

3 papers

NM_002123.5

p.R162Q

c.485G>A