Varaico: Literature-Extracted Genetic Variants

Gene:C19orf12
Variant:p.*78delFs

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.*78delFs
c.232_233delTA
Surrounding Variants
2 papers
NM_031448.6
p.*142S
c.425A>C
2 papers
NM_031448.6
p.D141_*142del2
c.421_425del6
1 paper
NM_031448.6
p.Q138_D140del0
c.414_419del6
5 papers
NM_031448.6
p.Y139C
c.416A>G
1 paper
NM_031448.6
p.Q138R
c.413A>G
1 paper
NM_031448.6
p.I137insFs
c.411dupC
1 paper
NM_031448.6
p.Q138insFs
c.412_413insT
1 paper
NM_031448.6
p.A135_I137delFs
c.405_409del5
2 papers
NM_001282929.1
p.E68_E72delFs
c.204_214del11
2 papers
NM_031448.6
p.A135insFs
c.404dupC
1 paper
NM_031448.6
p.A135delFs
c.405delG
3 papers
NM_031448.6
p.A135insFs
c.404_405insT
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