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

1–12 of 50 variants

4 papers

NM_002119.4

p.F139L

c.415T>C

4 papers

NM_002119.4

p.F139L

c.417C>G

4 papers

NM_002119.4

p.F139L

c.417C>A

3 papers

NM_002119.4

p.R105C

c.313C>T

2 papers

NM_002119.4

p.G6R

c.16G>C

2 papers

NM_002119.4

p.G6R

c.16G>A

2 papers

NM_002119.4

p.R79H

c.236G>A

2 papers

NM_002119.4

p.F163L

c.487T>C

2 papers

NM_002119.4

p.F163L

c.489C>G

2 papers

NM_002119.4

p.F163L

c.489C>A

2 papers

NM_002119.4

p.A198V

c.593C>T

2 papers

NM_002119.4

p.G231V

c.692G>T