Varaico: Literature-Extracted Genetic Variants

Gene:C19orf12
Variant:p.A93delFs

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.A93delFs
c.279delT
Surrounding Variants
8 papers
NM_031448.6
p.A94fs
c.280_281fs
7 papers
NM_031448.6
p.A93insFs
c.278dupC
5 papers
NM_031448.6
p.A93delFs
c.278delG
5 papers
NM_031448.6
p.A93_A94delFs
c.279_282del4
1 paper
NM_001282931.3
p.A28V
c.83C>T
1 paper
NM_031448.6
p.E91_A92insFs
c.273_274dupAG
4 papers
NM_031448.6
p.E91_A92insFs
c.273_274insA
2 papers
NM_001282929.1
p.I32delFs
c.94delT
1 paper
NM_031448.6
p.E91_A92insFs
c.273_274ins1
1 paper
NM_031448.6
p.E91A
c.272A>C
2 papers
NM_031448.6
p.E91*
c.271G>T
1 paper
NM_031448.6
p.F89delFs
c.267delA
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