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

6 papers

NM_002123.5

p.S214N

c.641G>A

Surrounding Variants

1 paper

NM_002123.5

p.L212I

c.634C>A

1 paper

NM_002123.5

p.S211I

c.632G>T

2 papers

NM_002123.5

p.T217I

c.650C>T

1 paper

NM_002123.5

p.P210R

c.629C>G

1 paper

NM_002123.5

p.R221Splc

c.661+7G>A

1 paper

NM_002123.5

p.T204P

c.610A>C

2 papers

NM_002123.5

p.D201E

c.603T>G

1 paper

NM_002123.5

p.D201D

c.603T>C

2 papers

NM_002123.5

p.D201E

c.603T>A

5 papers

NM_002123.5

p.R199H

c.596G>A

1 paper

NM_002123.5

p.Q198K

c.592C>A

1 paper

NM_002123.5

p.P197H

c.590C>A