Varaico: Literature-Extracted Genetic Variants

Gene:C19orf12
Variant:p.G68_P72delFs

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
38 papers
NM_031448.6
p.G68_P72delFs
c.204_214del11
Surrounding Variants
1 paper
NM_031448.6
p.P72L
c.215C>T
1 paper
NM_001282931.3
p.P8P
c.24G>C
1 paper
NM_031448.6
p.P72S
c.214C>T
1 paper
NM_031448.6
p.G68_K71delFs
c.204_211del8
2 papers
NM_001282931.3
p.K7R
c.20A>G
NM_031448.6
p.K71R
c.212A>G
2 papers
NM_031448.6
p.K71*
c.211A>T
2 papers
NM_031448.6
p.F70insFs
c.210dupT
1 paper
NM_031448.6
p.Q75*
c.223C>T
1 paper
NM_031448.6
p.Q69P
c.206A>C
3 papers
NM_031448.6
p.Q69*
c.205C>T
1 paper
NM_031448.6
p.M65_G68delFs
c.194_204del11
1 paper
NM_001282931.3
p.G4R
c.10G>C
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