Varaico: Literature-Extracted Genetic Variants

Gene:C19orf12
Variant:p.R87S

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.R87S
c.261G>C
Surrounding Variants
1 paper
NM_031448.6
p.R87S
c.261G>T
1 paper
NM_031448.6
p.L88_F89insFs
c.264_265ins4
1 paper
NM_031448.6
p.L88fs
c.262_263fs
1 paper
NM_031448.6
p.F89fs
c.265_266fs
9 papers
NM_031448.6
p.Q86*
c.256C>T
1 paper
NM_031448.6
p.Q86E
c.256C>G
1 paper
NM_031448.6
p.Q85P
c.254A>C
1 paper
NM_031448.6
p.F89delFs
c.267delA
2 papers
NM_031448.6
p.F89delFs
c.265_266delAA
1 paper
NM_001282931.3
p.Q21delFs
c.61delG
2 papers
NM_031448.6
p.E91*
c.271G>T
1 paper
NM_031448.6
p.E84G
c.251A>G
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