Varaico: Literature-Extracted Genetic Variants

HLA-DQA2

245 papers

RefSeq Summary

This gene belongs to the HLA class II alpha chain family. The encoded protein forms a heterodimer with a class II beta chain. It is located in intracellular vesicles and plays a central role in the pe...

Pfam Domains

MHC_II_alphaaa 29–109UCSCClass II histocompatibility antigen, alpha domain

C1-setaa 115–196UCSCImmunoglobulin C1-set domain

Gene Aliases

HGNC Name

major histocompatibility complex, class II, DQ alpha 2

HGNC Previous Symbol

HLA-DXA

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_020056.5

p.G126V

c.377G>T

Surrounding Variants

5 papers

NM_020056.5

p.P128H

c.383C>A

1 paper

NM_020056.5

p.T124A

c.370A>G

12 papers

NM_020056.5

p.T130I

c.389C>T

3 papers

NM_020056.5

p.F121S

c.362T>C

1 paper

NM_020056.5

p.F121_P122delins

c.362_366delinsCTCCC

1 paper

NM_020056.5

p.S119F

c.356C>T

1 paper

NM_020056.5

p.S119P

c.355T>C

1 paper

NM_020056.5

p.F139_I145del0

c.415_435del21

1 paper

NM_020056.5

p.T116_F118del0

c.346_354del9

1 paper

NM_020056.5

p.P141T

c.421C>A

2 papers

NM_020056.5

p.E111Splc

c.332-3C>T

1 paper

NM_020056.5

p.V143A

c.428T>C