Varaico: Literature-Extracted Genetic Variants

Gene:C19orf12
Variant:p.L80L

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
6 papers
NM_031448.6
p.L80L
c.238C>T
Surrounding Variants
6 papers
NM_031448.6
p.I76_E79delFs
c.227_237del11
1 paper
NM_031448.6
p.L80_P81insFs
c.240_241insA
1 paper
NM_031448.6
p.E79*
c.235G>T
1 paper
NM_031448.6
p.P81fs
c.241_242fs
1 paper
NM_031448.6
p.M78delFs
c.232_233delAT
2 papers
NM_031448.6
p.P82fs
c.244_245fs
1 paper
NM_031448.6
p.M78fs
c.232_233fs
1 paper
NM_031448.6
p.L77delFs
c.230_231delTA
1 paper
NM_031448.6
p.I76_L77delFs
c.226_230del5
1 paper
NM_031448.6
p.P82L
c.245C>T
2 papers
NM_031448.6
p.P82insFs
c.245dupC
2 papers
NM_031448.6
p.P82insFs
c.244_245dupCC
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."