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.E205delFs

c.614_615delAG

Surrounding Variants

1 paper

NM_020056.5

p.E205Splc

c.614-1G>A

1 paper

NM_020056.5

p.E205fs

c.613_614fs

1 paper

NM_020056.5

p.P206_E217del12

c.616_650del36

4 papers

NM_020056.5

p.A210T

c.628G>A

1 paper

NM_020056.5

p.A210A

c.630C>A

1 paper

NM_020056.5

p.M212I

c.636G>A

1 paper

NM_020056.5

p.S213S

c.639A>G

1 paper

NM_020056.5

p.E217_T218del2

c.649_653del6

2 papers

NM_020056.5

p.L219V

c.655T>G

2 papers

NM_020056.5

p.V220_C221insTC

c.658_662ins6

1 paper

NM_020056.5

p.C221C

c.663C>T

6 papers

NM_020056.5

p.A222T

c.664G>A