Varaico: Literature-Extracted Genetic Variants

Gene:C19orf12
Variant:p.G47_P48delFs

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
2 papers
NM_031448.6
p.G47_P48delFs
c.141_142delGG
Surrounding Variants
2 papers
NM_031448.6
p.P49L
c.146C>T
2 papers
NM_031448.6
p.G47S
c.139G>A
1 paper
NM_031448.6
p.G46_G50delFs
c.138_148del11
1 paper
NM_031448.6
p.G47fs
c.139_140fs
1 paper
NM_031448.6
p.G46D
c.137G>A
1 paper
NM_031448.6
p.G50delFs
c.150delT
1 paper
NM_031448.6
p.G50_L51delFs
c.150_151delGT
1 paper
NM_031448.6
p.A52P
c.154G>C
12 papers
NM_031448.6
p.V53I
c.157G>A
1 paper
NM_031448.6
p.L44M
c.130T>A
1 paper
NM_031448.6
p.G42insFs
c.125dupG
1 paper
NM_031448.6
p.G43delFs
c.128delC
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