Varaico: Literature-Extracted Genetic Variants

Gene:C19orf12
Variant:p.T108insFs

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.T108insFs
c.324dupC
Surrounding Variants
1 paper
NM_031448.6
p.A109fs
c.325_326fs
1 paper
NM_031448.6
p.T108T
c.324C>T
1 paper
NM_031448.6
p.T108delFs
c.322delT
1 paper
NM_031448.6
p.L110Q
c.329T>A
1 paper
NM_001282931.3
p.L43delFs
c.128delA
1 paper
NM_001282931.3
p.V47I
c.139G>A
1 paper
NM_031448.6
p.T102_L110del9
c.304_329del27
1 paper
NM_031448.6
p.V105_Q106del2
c.313_317del6
1 paper
NM_031448.6
p.Q106*
c.316C>T
1 paper
NM_031448.6
p.M112I
c.336G>C
5 papers
NM_031448.6
p.M112I
c.336G>A
1 paper
NM_031448.6
p.G113C
c.337G>T
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