Varaico: Literature-Extracted Genetic Variants

Gene:C19orf12
Variant:p.A52P

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_001282931.3
p.A52P
c.154G>C
Surrounding Variants
1 paper
NM_031448.6
p.A116T
c.346G>A
1 paper
NM_031448.6
p.E115K
c.343G>A
1 paper
NM_031448.6
p.E115fs
c.343_344fs
6 papers
NM_031448.6
p.L117L
c.349C>T
1 paper
NM_031448.6
p.L117V
c.349C>G
1 paper
NM_001282931.3
p.L46_S50delFs
c.138_148del11
1 paper
NM_001256046.3
p.C99_S100insFs
c.297_298ins4
1 paper
NM_031448.6
p.G113_S114insFs
c.339_340insA
1 paper
NM_031448.6
p.G113insFs
c.338_339insA
1 paper
NM_031448.6
p.M112_G113Fs
c.336_338delinsCACAFs
1 paper
NM_001282931.3
p.Q54delFs
c.161delT
1 paper
NM_031448.6
p.G113C
c.337G>T
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