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.S27insFs

c.80_81insTT

Surrounding Variants

4 papers

NM_002123.5

p.S27T

c.79T>A

1 paper

NM_002123.5

p.S27S

c.81C>T

2 papers

NM_002123.5

p.L28P

c.83T>C

1 paper

NM_002123.5

p.L28delins

c.82_83delinsTC

1 paper

NM_002123.5

p.L28fs

c.82_83fs

1 paper

NM_002123.5

p.L28delFs

c.82_83delAG

1 paper

NM_002123.5

p.L25delFs

c.74_75delCA

1 paper

NM_002123.5

p.L25L

c.75G>A

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