Varaico: Literature-Extracted Genetic Variants

Gene:C19orf12
Variant:p.Q75*

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.Q75*
c.223C>T
Surrounding Variants
1 paper
NM_031448.6
p.I76_L77delFs
c.228_229delGG
1 paper
NM_001282931.3
p.P8P
c.24G>C
1 paper
NM_031448.6
p.P72L
c.215C>T
38 papers
NM_031448.6
p.G68_P72delFs
c.204_214del11
1 paper
NM_031448.6
p.M78fs
c.232_233fs
1 paper
NM_031448.6
p.P72S
c.214C>T
1 paper
NM_031448.6
p.L77delFs
c.230_231delTA
1 paper
NM_031448.6
p.I76_L77delFs
c.226_230del5
1 paper
NM_031448.6
p.G68_K71delFs
c.204_211del8
1 paper
NM_031448.6
p.M78delFs
c.232_233delAT
2 papers
NM_001282931.3
p.K7R
c.20A>G
NM_031448.6
p.K71R
c.212A>G
1 paper
NM_031448.6
p.E79*
c.235G>T
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