Varaico: Literature-Extracted Genetic Variants

HLA-DOA

47 papers

RefSeq Summary

HLA-DOA belongs to the HLA class II alpha chain paralogues. HLA-DOA forms a heterodimer with HLA-DOB. The heterodimer, HLA-DO, is found in lysosomes in B cells and regulates HLA-DM-mediated peptide lo...

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, DO alpha

HGNC Previous Symbols

HLA-DZA; HLA-DNA

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_002119.4

p.M1I

c.3G>T

Surrounding Variants

1 paper

NM_002119.4

p.M1I

c.3G>C

1 paper

NM_002119.4

p.M1I

c.3G>A

1 paper

NM_002119.4

p.M1T

c.2T>C

2 papers

NM_002119.4

p.G6R

c.16G>C

2 papers

NM_002119.4

p.G6R

c.16G>A

1 paper

NM_002119.4

p.H12H

c.36C>T

1 paper

NM_002119.4

p.L14V

c.40C>G

1 paper

NM_002119.4

p.G32A

c.95G>C

1 paper

NM_002119.4

p.P36P

c.108C>T

1 paper

NM_002119.4

p.P36delFs

c.108delG

1 paper

NM_002119.4

p.A37fs

c.109_110fs

1 paper

NM_002119.4

p.A44T

c.130G>A