Varaico: Literature-Extracted Genetic Variants

Gene:C19orf12
Variant:p.M124fs

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.M124fs
c.370_371fs
Surrounding Variants
1 paper
NM_001282931.3
p.A59insFs
c.177dupC
2 papers
NM_031448.6
p.M124R
c.371T>G
4 papers
NM_031448.6
p.M124insFs
c.371_372insT
2 papers
NM_031448.6
p.A123P
c.367G>C
1 paper
NM_031448.6
p.M124delFs
c.372delC
1 paper
NM_001282931.3
p.L61R
c.182T>G
2 papers
NM_001282929.1
p.L57_L61delFs
c.171_181del11
1 paper
NM_031448.6
p.L122P
c.365T>C
1 paper
NM_031448.6
p.L121insFs
c.362_363ins8
8 papers
NM_031448.6
p.L121Q
c.362T>A
1 paper
NM_001282931.3
p.Q55_Q56del1
c.164_166delGCT
1 paper
NM_031448.6
p.Q120H
c.360G>T
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