Varaico: Literature-Extracted Genetic Variants

HLA-DQB2

47 papers

RefSeq Summary

HLA-DQB2 belongs to the family of HLA class II beta chain paralogs. Class II molecules are heterodimers consisting of an alpha (DQA) and a beta chain (DQB), both anchored in the membrane. They play a ...

Pfam Domains

MHC_II_betaaa 41–114UCSCClass II histocompatibility antigen, beta domain

C1-setaa 126–207UCSCImmunoglobulin C1-set domain

Gene Aliases

HGNC Name

major histocompatibility complex, class II, DQ beta 2

HGNC Previous Symbol

HLA-DXB

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

3 papers

NM_001300790.2

p.A112V

c.335C>T

Surrounding Variants

2 papers

NM_001300790.2

p.A112S

c.334G>T

1 paper

NM_001300790.2

p.E111E

c.333G>A

2 papers

NM_001300790.2

p.E111Q

c.331G>C

1 paper

NM_001300790.2

p.L114L

c.342G>C

1 paper

NM_001300790.2

p.T116T

c.348G>A

1 paper

NM_001300790.2

p.K104R

c.311A>G

1 paper

NM_001300790.2

p.K104T

c.311A>C

3 papers

NM_001300790.2

p.Q121R

c.362A>G

1 paper

NM_001300790.2

p.V102L

c.304G>T

1 paper

NM_001300790.2

p.V102L

c.304G>C

1 paper

NM_001300790.2

p.A100A

c.300C>G

1 paper

NM_001300790.2

p.R99fs

c.295_296fs