Varaico: Literature-Extracted Genetic Variants

Gene:C19orf12
Variant:p.A104V

C19orf12

150 papers

RefSeq Summary

This gene encodes a small transmembrane protein. Mutations in this gene are a cause of neurodegeneration with brain iron accumulation-4 (NBIA4), but the specific function of the encoded protein is unk...

Pfam Domains

C19orf12aa 1–141UCSCC19orf12-like protein

Gene Aliases

HGNC Name

chromosome 19 open reading frame 12

HGNC Previous Symbol

SPG43

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_031448.6
p.A104V
c.311C>T
Surrounding Variants
1 paper
NM_031448.6
p.T102insFs
c.305dupC
1 paper
NM_031448.6
p.Q106*
c.316C>T
1 paper
NM_031448.6
p.W101_T102Fs
c.303_305delinsCACAFs
1 paper
NM_031448.6
p.W101*
c.303G>A
1 paper
NM_031448.6
p.V105_Q106del2
c.313_317del6
1 paper
NM_031448.6
p.W101*
c.302G>A
2 papers
NM_031448.6
p.E100delFs
c.300delC
1 paper
NM_001282931.3
p.L43delFs
c.128delA
1 paper
NM_031448.6
p.W101fs
c.301_302fs
1 paper
NM_031448.6
p.T108delFs
c.322delT
1 paper
NM_031448.6
p.H98_L99insFs
c.294_297dup4
3 papers
NM_031448.6
p.L99_E100insFs
c.297_298ins4
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