Varaico: Literature-Extracted Genetic Variants

Gene:C19orf12
Variant:p.G58R

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
11 papers
NM_031448.6
p.G58R
c.172G>A
Surrounding Variants
5 papers
NM_031448.6
p.G58R
c.172G>C
4 papers
NM_031448.6
p.G58fs
c.172_173fs
1 paper
NM_031448.6
p.V57insFs
c.170_171insG
5 papers
NM_031448.6
p.A56insFs
c.166_167insG
5 papers
NM_031448.6
p.A56delFs
c.166delC
4 papers
NM_031448.6
p.G55_A56del1
c.164_166delCCC
1 paper
NM_031448.6
p.A56fs
c.166_167fs
2 papers
NM_031448.6
p.L60fs
c.178_179fs
1 paper
NM_031448.6
p.L60V
c.178C>G
4 papers
NM_031448.6
p.G59insFs
c.177dupG
1 paper
NM_031448.6
p.G59delFs
c.177delC
1 paper
NM_031448.6
p.L60fs
c.178_179fs
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