Varaico: Literature-Extracted Genetic Variants

Gene:C19orf12
Variant:p.F40V

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.F40V
c.118T>G
Surrounding Variants
1 paper
NM_031448.6
p.A39delFs
c.117delG
3 papers
NM_031448.6
p.A39V
c.116C>T
3 papers
NM_031448.6
p.G42R
c.124G>C
4 papers
NM_031448.6
p.G42R
c.124G>A
1 paper
NM_031448.6
p.V34_A37del4
c.100_110del12
1 paper
NM_031448.6
p.G43fs
c.127_128fs
1 paper
NM_031448.6
p.A37S
c.109G>T
2 papers
NM_031448.6
p.A37fs
c.109_110fs
1 paper
NM_031448.6
p.G43D
c.128G>A
1 paper
NM_031448.6
p.G42insFs
c.125dupG
1 paper
NM_031448.6
p.G43delFs
c.128delC
1 paper
NM_031448.6
p.T35_G36delFs
c.105_106delCT
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