Varaico: Literature-Extracted Genetic Variants

Gene:C19orf12
Variant:p.P82fs

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
2 papers
NM_031448.6
p.P82fs
c.244_245fs
Surrounding Variants
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
2 papers
NM_031448.6
p.P82delFs
c.245delG
1 paper
NM_031448.6
p.P82delFs
c.246delA
1 paper
NM_031448.6
p.A83fs
c.247_248fs
1 paper
NM_031448.6
p.P81fs
c.241_242fs
1 paper
NM_031448.6
p.L80_P81insFs
c.240_241insA
6 papers
NM_031448.6
p.A83V
c.248C>T
1 paper
NM_031448.6
p.A83fs
c.247_248fs
2 papers
NM_031448.6
p.E84*
c.250G>T
1 paper
NM_031448.6
p.P82_A83delFs
c.246_249del4
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