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.D89G

c.266A>G

Surrounding Variants

7 papers

NM_002123.5

p.D89V

c.266A>T

4 papers

NM_002123.5

p.D89A

c.266A>C

1 paper

NM_002123.5

p.D89D

c.267T>C

1 paper

NM_002123.5

p.D89delins

c.266_267delinsCC

1 paper

NM_002123.5

p.D89delins

c.265_267delinsAGC

1 paper

NM_002123.5

p.D89N

c.265G>A

1 paper

NM_002123.5

p.P88L

c.263C>T

1 paper

NM_002123.5

p.A90D

c.269C>A

3 papers

NM_002123.5

p.R87L

c.260G>T

9 papers

NM_002123.5

p.R87P

c.260G>C

1 paper

NM_002123.5

p.G86R

c.256G>A

2 papers

NM_002123.5

p.Y92*

c.276C>G