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

1–12 of 177 variants

12 papers

NM_020056.5

p.T130I

c.389C>T

11 papers

NM_020056.5

p.Q241R

c.722A>G

7 papers

NM_020056.5

p.Y48F

c.143A>T

7 papers

NM_020056.5

p.M73L

c.217A>C

7 papers

NM_020056.5

p.F179L

c.535T>C

7 papers

NM_020056.5

p.D184E

c.552T>G

6 papers

NM_020056.5

p.L8M

c.22C>A

6 papers

NM_020056.5

p.T49S

c.146C>G

6 papers

NM_020056.5

p.M73L

c.217A>T

6 papers

NM_020056.5

p.M99V

c.295A>G

6 papers

NM_020056.5

p.I186S

c.557T>G

6 papers

NM_020056.5

p.A222T

c.664G>A