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.Y62N

c.184T>A

Surrounding Variants

10 papers

NM_002123.5

p.Y62H

c.184T>C

2 papers

NM_002123.5

p.Y62C

c.185A>G

4 papers

NM_002123.5

p.Y62S

c.185A>C

2 papers

NM_002123.5

p.Y62delins

c.184_185delinsAG

1 paper

NM_002123.5

p.T60I

c.179C>T

5 papers

NM_002123.5

p.T60S

c.179C>G

1 paper

NM_002123.5

p.I63I

c.189C>A

1 paper

NM_002123.5

p.T60N

c.179C>A

5 papers

NM_002123.5

p.T60S

c.178A>T

1 paper

NM_002123.5

p.V59V

c.177G>A

2 papers

NM_002123.5

p.V59L

c.175G>T

2 papers

NM_002123.5

p.V59L

c.175G>C