Varaico: Literature-Extracted Genetic Variants

Gene:C19orf12

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
1–12 of 240 variants
38 papers
NM_031448.6
p.G68_P72delFs
c.204_214del11
12 papers
NM_031448.6
p.V53I
c.157G>A
12 papers
NM_031448.6
p.A63P
c.187G>C
11 papers
NM_031448.6
p.G58R
c.172G>A
10 papers
NM_031448.6
p.V57_L61delFs
c.171_181del11
9 papers
NM_031448.6
p.Q86*
c.256C>T
8 papers
NM_031448.6
p.A94fs
c.280_281fs
8 papers
NM_031448.6
p.L121Q
c.362T>A
7 papers
NM_031448.6
p.A93insFs
c.278dupC
6 papers
NM_031448.6
p.L80L
c.238C>T
6 papers
NM_031448.6
p.I76_E79delFs
c.227_237del11
6 papers
NM_031448.6
p.A83V
c.248C>T
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