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

2 papers

NM_020056.5

p.S153A

c.457T>G

Surrounding Variants

1 paper

NM_020056.5

p.V154I

c.460G>A

1 paper

NM_020056.5

p.V154_T155delFs

c.462_463delCA

1 paper

NM_020056.5

p.T155K

c.464C>A

1 paper

NM_020056.5

p.E156del1

c.466_467delGAA

2 papers

NM_020056.5

p.G157S

c.469G>A

1 paper

NM_020056.5

p.L148Fs

c.444delinsATTTCATAFs

1 paper

NM_020056.5

p.L148P

c.443T>C

2 papers

NM_020056.5

p.T146T

c.438C>A

1 paper

NM_020056.5

p.V143A

c.428T>C

1 paper

NM_020056.5

p.P141T

c.421C>A

1 paper

NM_020056.5

p.S167R

c.499A>C

1 paper

NM_020056.5

p.F139_I145del0

c.415_435del21