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

1–12 of 245 variants

10 papers

NM_002123.5

p.Y62H

c.184T>C

9 papers

NM_002123.5

p.R87P

c.260G>C

8 papers

NM_002123.5

p.A118E

c.353C>A

7 papers

NM_002123.5

p.D12G

c.35A>G

7 papers

NM_002123.5

p.Q85L

c.254A>T

7 papers

NM_002123.5

p.D89V

c.266A>T

7 papers

NM_002123.5

p.V117L

c.349G>T

6 papers

NM_002123.5

p.V117L

c.349G>C

6 papers

NM_002123.5

p.G121A

c.362G>C

6 papers

NM_002123.5

p.S214N

c.641G>A

5 papers

NM_002123.5

p.L58V

c.172C>G

5 papers

NM_002123.5

p.L58H

c.173T>A