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.K76E

c.226A>G

Surrounding Variants

1 paper

NM_020056.5

p.K76fs

c.226_227fs

5 papers

NM_020056.5

p.K76R

c.227A>G

4 papers

NM_020056.5

p.S75R

c.225C>A

4 papers

NM_020056.5

p.S75R

c.225C>G

2 papers

NM_020056.5

p.S75S

c.225C>T

3 papers

NM_020056.5

p.S75N

c.224G>A

5 papers

NM_020056.5

p.S75R

c.223A>C

3 papers

NM_020056.5

p.F77L

c.229T>C

2 papers

NM_020056.5

p.F77L

c.231T>A

2 papers

NM_020056.5

p.F77L

c.231T>G

1 paper

NM_020056.5

p.I78del1

c.232_233delATA

1 paper

NM_020056.5

p.F74fs

c.220_221fs