Varaico: Literature-Extracted Genetic Variants

Gene:C19orf12
Variant:p.L11P

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.L11P
c.32T>C
Surrounding Variants
1 paper
NM_031448.6
p.L11L
c.31C>T
1 paper
NM_031448.6
p.L12delFs
c.35delA
1 paper
NM_031448.6
p.M9insFs
c.27dupG
1 paper
NM_031448.6
p.C13S
c.38G>C
1 paper
NM_031448.6
p.L12_C13delFs
c.34_37del4
1 paper
NM_031448.6
p.M9L
c.25A>T
1 paper
NM_031448.6
p.D7G
c.20A>G
1 paper
NM_031448.6
p.D7insFs
c.19dupG
1 paper
NM_031448.6
p.D7Y
c.19G>T
1 paper
NM_031448.6
p.M1_V5del5
c.1_14del15
3 papers
NM_031448.6
p.E18*
c.52G>T
1 paper
NM_031448.6
p.E18V
c.53A>T
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