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.N110K

c.330C>A

Surrounding Variants

1 paper

NM_002119.4

p.N110K

c.330C>G

1 paper

NM_002119.4

p.N110H

c.328A>C

3 papers

NM_002119.4

p.R105C

c.313C>T

1 paper

NM_002119.4

p.L99V

c.295C>G

1 paper

NM_002119.4

p.G84G

c.252C>T

2 papers

NM_002119.4

p.R79H

c.236G>A

1 paper

NM_002119.4

p.R79C

c.235C>T

1 paper

NM_002119.4

p.R70G

c.208C>G

1 paper

NM_002119.4

p.E66K

c.196G>A

1 paper

NM_002119.4

p.K63K

c.189G>A

1 paper

NM_002119.4

p.E54K

c.160G>A

1 paper

NM_002119.4

p.S45S

c.135G>A