Varaico: Literature-Extracted Genetic Variants

Gene:FAM114A1

FAM114A1

34 papers

RefSeq Summary

The protein encoded by this gene belongs to the FAM114 family and may play a role in neuronal cell development. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2...

Pfam Domains

DUF719aa 125–299UCSCProtein of unknown function (DUF719)

Gene Aliases

HGNC Name

family with sequence similarity 114 member A1

HGNC Alias Symbol

Noxp20

Papers
RefSeq ID
Protein change
DNA change
1–12 of 35 variants
3 papers
NM_138389.4
p.V443I
c.1327G>A
2 papers
NM_138389.4
p.G84R
c.250G>A
2 papers
NM_138389.4
p.G84R
c.250G>C
1 paper
NM_138389.4
p.M1insFs
c.3dupG
1 paper
NM_138389.4
p.M20I
c.60G>A
1 paper
NM_138389.4
p.M20I
c.60G>C
1 paper
NM_138389.4
p.M20I
c.60G>T
1 paper
NM_138389.4
p.H33R
c.98A>G
1 paper
NM_138389.4
p.S40L
c.119C>T
1 paper
NM_138389.4
p.P48L
c.143C>T
1 paper
NM_138389.4
p.V58V
c.174G>T
1 paper
NM_138389.4
p.I66V
c.196A>G
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."