Varaico: Literature-Extracted Genetic Variants

Gene:C19orf12
Variant:p.G29R

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.G29R
c.85G>C
Surrounding Variants
1 paper
NM_031448.6
p.G29R
c.85G>A
1 paper
NM_031448.6
p.S28F
c.83C>T
1 paper
NM_031448.6
p.H27L
c.80A>T
1 paper
NM_031448.6
p.A32delFs
c.94delC
1 paper
NM_031448.6
p.A24delFs
c.72delA
1 paper
NM_031448.6
p.L33Q
c.98T>A
1 paper
NM_031448.6
p.A23V
c.68C>T
1 paper
NM_031448.6
p.T35T
c.105A>T
1 paper
NM_031448.6
p.T35delFs
c.105delT
1 paper
NM_031448.6
p.M21fs
c.61_62fs
1 paper
NM_031448.6
p.T35_G36delFs
c.105_106delCT
1 paper
NM_031448.6
p.M21delFs
c.61delT
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."