Varaico: Literature-Extracted Genetic Variants

Gene:C19orf12
Variant:p.G59delFs

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.G59delFs
c.177delC
Surrounding Variants
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.L60fs
c.178_179fs
1 paper
NM_031448.6
p.L61fs
c.181_182fs
2 papers
NM_031448.6
p.L61*
c.182T>G
1 paper
NM_031448.6
p.L61*
c.182T>A
10 papers
NM_031448.6
p.V57_L61delFs
c.171_181del11
1 paper
NM_031448.6
p.L61insFs
c.182dupT
5 papers
NM_031448.6
p.G58R
c.172G>C
11 papers
NM_031448.6
p.G58R
c.172G>A
4 papers
NM_031448.6
p.G58fs
c.172_173fs
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