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.G52A

c.155G>C

Surrounding Variants

1 paper

NM_002123.5

p.G52G

c.156G>A

2 papers

NM_002123.5

p.T53T

c.159G>A

1 paper

NM_002123.5

p.T50A

c.148A>G

3 papers

NM_002123.5

p.R55L

c.164G>T

3 papers

NM_002123.5

p.R55P

c.164G>C

1 paper

NM_002123.5

p.Y48*

c.144C>A

1 paper

NM_002123.5

p.V56_R57insFs

c.168_169insT

1 paper

NM_002123.5

p.R57C

c.169C>T

1 paper

NM_002123.5

p.V56_R57insFs

c.168_169insG

2 papers

NM_002123.5

p.R57R

c.171T>G

4 papers

NM_002123.5

p.L58F

c.172C>T

5 papers

NM_002123.5

p.L58V

c.172C>G