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.E98D

c.294A>T

Surrounding Variants

1 paper

NM_002123.5

p.E98D

c.294A>C

1 paper

NM_002123.5

p.E98_V99delins

c.294_295delinsCA

3 papers

NM_002123.5

p.G102R

c.304G>C

3 papers

NM_002123.5

p.G102R

c.304G>A

1 paper

NM_002123.5

p.G102E

c.305G>A

4 papers

NM_002123.5

p.T103A

c.307A>G

2 papers

NM_002123.5

p.T103N

c.308C>A

1 paper

NM_002123.5

p.W93delFs

c.278_279delCC

1 paper

NM_002123.5

p.W93C

c.279G>T

1 paper

NM_002123.5

p.W93fs

c.277_278fs

1 paper

NM_002123.5

p.W93C

c.279G>C

2 papers

NM_002123.5

p.Y92*

c.276C>G