Varaico: Literature-Extracted Genetic Variants

Gene:C19orf12
Variant:p.Q55_Q56del1

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.Q55_Q56del1
c.164_166delGCT
Surrounding Variants
1 paper
NM_031448.6
p.L121insFs
c.362_363ins8
8 papers
NM_031448.6
p.L121Q
c.362T>A
1 paper
NM_031448.6
p.Q120H
c.360G>T
1 paper
NM_031448.6
p.Q120insFs
c.359dupA
1 paper
NM_031448.6
p.L122P
c.365T>C
2 papers
NM_001282931.3
p.Q56insFs
c.166dupC
NM_031448.6
p.Q120insFs
c.358dupC
1 paper
NM_001282931.3
p.Q56delFs
c.166delG
4 papers
NM_031448.6
p.Q119insFs
c.357dupG
2 papers
NM_031448.6
p.A123P
c.367G>C
1 paper
NM_001256046.3
p.S101N
c.302G>A
1 paper
NM_001256046.3
p.S100delFs
c.300delG
1 paper
NM_031448.6
p.E115_Q119delFs
c.343_355del13
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