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

2 papers

NM_002119.4

p.A198V

c.593C>T

Surrounding Variants

1 paper

NM_002119.4

p.V186A

c.557T>C

1 paper

NM_002119.4

p.V186I

c.556G>A

1 paper

NM_002119.4

p.L170M

c.508T>A

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.F163L

c.487T>C

1 paper

NM_002119.4

p.T161S

c.482C>G

1 paper

NM_002119.4

p.T161S

c.481A>T

1 paper

NM_002119.4

p.M216K

c.647T>A

4 papers

NM_002119.4

p.F139L

c.417C>G

4 papers

NM_002119.4

p.F139L

c.417C>A

4 papers

NM_002119.4

p.F139L

c.415T>C