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

7 papers

NM_020056.5

p.Y48F

c.143A>T

Surrounding Variants

5 papers

NM_020056.5

p.T49S

c.145A>T

6 papers

NM_020056.5

p.T49S

c.146C>G

1 paper

NM_020056.5

p.G46G

c.138C>T

1 paper

NM_020056.5

p.H50Y

c.148C>T

1 paper

NM_020056.5

p.H50L

c.149A>T

1 paper

NM_020056.5

p.S45F

c.134C>T

1 paper

NM_020056.5

p.G54E

c.161G>A

3 papers

NM_020056.5

p.H42Y

c.124C>T

1 paper

NM_020056.5

p.E56G

c.167A>G

1 paper

NM_020056.5

p.Q40*

c.118C>T

1 paper

NM_020056.5

p.E57Q

c.169G>C

2 papers

NM_020056.5

p.F38L

c.114C>A