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.T109delins

c.326_327delinsGA

Surrounding Variants

1 paper

NM_002123.5

p.T109T

c.327G>A

4 papers

NM_002123.5

p.T109R

c.326C>G

1 paper

NM_002123.5

p.V110V

c.330G>T

1 paper

NM_002123.5

p.D108H

c.322G>C

1 paper

NM_002123.5

p.L107V

c.319T>G

1 paper

NM_002123.5

p.E106_L107delins

c.316_319delinsTCGG

1 paper

NM_002123.5

p.R112K

c.335G>A

2 papers

NM_002123.5

p.R112R

c.336A>G

1 paper

NM_002123.5

p.E106A

c.317A>C

3 papers

NM_002123.5

p.E106*

c.316G>T

5 papers

NM_002123.5

p.E116Q

c.346G>C

2 papers

NM_002123.5

p.T103N

c.308C>A