Varaico: Literature-Extracted Genetic Variants

Gene:C19orf12
Variant:p.G54A

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.G54A
c.161G>C
Surrounding Variants
4 papers
NM_031448.6
p.G54V
c.161G>T
2 papers
NM_031448.6
p.G54E
c.161G>A
3 papers
NM_031448.6
p.G54fs
c.160_161fs
1 paper
NM_031448.6
p.G54Splc
c.161-1G>T
4 papers
NM_031448.6
p.G55W
c.163G>T
1 paper
NM_031448.6
p.G54Splc
c.161-2A>G
1 paper
NM_031448.6
p.A56fs
c.166_167fs
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.V57insFs
c.170_171insG
5 papers
NM_031448.6
p.G58R
c.172G>C
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