Varaico: Literature-Extracted Genetic Variants

Gene:C19orf12
Variant:p.R134P

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.R134P
c.401G>C
Surrounding Variants
2 papers
NM_031448.6
p.R134W
c.400C>T
1 paper
NM_031448.6
p.A135fs
c.403_404fs
3 papers
NM_031448.6
p.A135insFs
c.404_405insT
1 paper
NM_031448.6
p.A135insFs
c.403dupG
NM_001282931.3
p.R70insFs
c.210dupG
1 paper
NM_001282929.1
p.E68_A71delFs
c.204_211del8
1 paper
NM_001282931.3
p.L69L
c.205C>T
1 paper
NM_001282931.3
p.V65_E68delFs
c.194_204del11
2 papers
NM_031448.6
p.A135insFs
c.404dupC
1 paper
NM_031448.6
p.A135delFs
c.405delG
2 papers
NM_001282929.1
p.E68_E72delFs
c.204_214del11
1 paper
NM_001282931.3
p.K67insFs
c.199dupA
1 paper
NM_001282931.3
p.K67delFs
c.199delT
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