Varaico: Literature-Extracted Genetic Variants

Gene:C19orf12
Variant:p.Q86*

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
9 papers
NM_031448.6
p.Q86*
c.256C>T
Surrounding Variants
1 paper
NM_031448.6
p.Q86E
c.256C>G
1 paper
NM_031448.6
p.Q85P
c.254A>C
1 paper
NM_001282931.3
p.Q21delFs
c.61delG
1 paper
NM_031448.6
p.R87S
c.261G>T
1 paper
NM_031448.6
p.R87S
c.261G>C
1 paper
NM_031448.6
p.E84G
c.251A>G
2 papers
NM_031448.6
p.E84*
c.250G>T
1 paper
NM_031448.6
p.P82_A83delFs
c.246_249del4
1 paper
NM_031448.6
p.A83fs
c.247_248fs
6 papers
NM_031448.6
p.A83V
c.248C>T
1 paper
NM_031448.6
p.L88_F89insFs
c.264_265ins4
1 paper
NM_031448.6
p.L88fs
c.262_263fs
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