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

8 papers

NM_002123.5

p.A118E

c.353C>A

Surrounding Variants

2 papers

NM_002123.5

p.A118G

c.353C>G

5 papers

NM_002123.5

p.F119L

c.355T>C

1 paper

NM_002123.5

p.E116_F119delins

c.346_355delinsCAGTTGGAGC

1 paper

NM_002123.5

p.V117V

c.351G>A

1 paper

NM_002123.5

p.V117delFs

c.350delA

5 papers

NM_002123.5

p.F119Y

c.356T>A

7 papers

NM_002123.5

p.V117L

c.349G>T

6 papers

NM_002123.5

p.V117L

c.349G>C

5 papers

NM_002123.5

p.F119L

c.357C>G

5 papers

NM_002123.5

p.F119L

c.357C>A

1 paper

NM_002123.5

p.E116Fs

c.348delinsTAAGGCCTTFs

1 paper

NM_002123.5

p.R120G

c.358C>G