Varaico: Literature-Extracted Genetic Variants

Gene:C19orf12
Variant:p.E91_A92insFs

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
4 papers
NM_031448.6
p.E91_A92insFs
c.273_274insA
Surrounding Variants
1 paper
NM_001282931.3
p.A28V
c.83C>T
1 paper
NM_031448.6
p.E91_A92insFs
c.273_274dupAG
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
7 papers
NM_031448.6
p.A93insFs
c.278dupC
5 papers
NM_031448.6
p.A93delFs
c.278delG
1 paper
NM_031448.6
p.A93delFs
c.279delT
8 papers
NM_031448.6
p.A94fs
c.280_281fs
1 paper
NM_031448.6
p.F89delFs
c.267delA
2 papers
NM_031448.6
p.F89delFs
c.265_266delAA
1 paper
NM_031448.6
p.F89fs
c.265_266fs
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."