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.R33I

c.98G>T

Surrounding Variants

1 paper

NM_002123.5

p.G32S

c.94G>A

4 papers

NM_002123.5

p.S35T

c.103T>A

1 paper

NM_002123.5

p.S35F

c.104C>T

1 paper

NM_002123.5

p.E31Q

c.91G>C

1 paper

NM_002123.5

p.E31K

c.91G>A

2 papers

NM_002123.5

p.L29fs

c.85_86fs

1 paper

NM_002123.5

p.L29fs

c.85_86fs

1 paper

NM_002123.5

p.L29V

c.85C>G

2 papers

NM_002123.5

p.L29insFs

c.85_86insGG

1 paper

NM_002123.5

p.L28_L29delins

c.83_85delinsCGG

1 paper

NM_002123.5

p.S27_L29delins

c.79_85delinsACCCCAG

1 paper

NM_002123.5

p.L28fs

c.82_83fs