Varaico: Literature-Extracted Genetic Variants

Gene:PCNX1
Variant:p.V2209M

PCNX1

54 papers

RefSeq Summary

This gene encodes an evolutionarily conserved transmembrane protein similar to the pecanex protein in Drosophila. The fly protein is a component of the Notch signaling pathway, which functions in seve...

Pfam Domains

Pecanex_Caa 1782–2008UCSCPecanex protein (C-terminus)
Pecanex_Caa 1782–2008UCSCPecanex protein (C-terminus)

Gene Aliases

HGNC Name

pecanex 1

HGNC Previous Symbol

PCNXL1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_014982.3
p.V2209M
c.6625G>A
Surrounding Variants
1 paper
NM_014982.3
p.E2242*
c.6724G>T
1 paper
NM_014982.3
p.I2156L
c.6466A>C
1 paper
NM_014982.3
p.I2156L
c.6466A>T
2 papers
NM_014982.3
p.R2139W
c.6415C>T
1 paper
NM_014982.3
p.R2120W
c.6358C>T
1 paper
NM_014982.3
p.T2056S
c.6167C>G
1 paper
NM_014982.3
p.R2032S
c.6096G>C
1 paper
NM_014982.3
p.R2032S
c.6096G>T
1 paper
NM_014982.3
p.R2032fs
c.6094_6095fs
1 paper
NM_014982.3
p.W2030*
c.6090G>A
1 paper
NM_014982.3
p.W2030*
c.6089G>A
1 paper
NM_014982.3
p.F2025F
c.6075C>T
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