Varaico: Literature-Extracted Genetic Variants

Gene:C19orf12
Variant:p.W64insFs

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
3 papers
NM_031448.6
p.W64insFs
c.191_192insG
Surrounding Variants
1 paper
NM_031448.6
p.M65fs
c.193_194fs
1 paper
NM_031448.6
p.T66_S67insFs
c.198_199insT
12 papers
NM_031448.6
p.A63P
c.187G>C
1 paper
NM_031448.6
p.G62delFs
c.186delA
1 paper
NM_031448.6
p.S67insFs
c.199dupA
2 papers
NM_031448.6
p.S67delFs
c.199delT
5 papers
NM_031448.6
p.T66_S67del1
c.197_199delTTG
1 paper
NM_031448.6
p.S67Fs
c.200delinsGCFs
1 paper
NM_001282931.3
p.G4R
c.10G>C
1 paper
NM_031448.6
p.L61insFs
c.182dupT
2 papers
NM_031448.6
p.L61*
c.182T>G
1 paper
NM_031448.6
p.L61*
c.182T>A
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