Varaico: Literature-Extracted Genetic Variants

Gene:PCNX1
Variant:p.R207Q

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.R207Q
c.620G>A
Surrounding Variants
1 paper
NM_014982.3
p.D231N
c.691G>A
1 paper
NM_014982.3
p.S359R
c.1077C>A
1 paper
NM_014982.3
p.L371M
c.1111T>A
1 paper
NM_014982.3
p.R377R
c.1129C>A
1 paper
NM_014982.3
p.T393I
c.1178C>T
1 paper
NM_014982.3
p.N513N
c.1539C>T
1 paper
NM_014982.3
p.G540E
c.1619G>A
1 paper
NM_014982.3
p.V549I
c.1645G>A
1 paper
NM_014982.3
p.A556A
c.1668C>T
1 paper
NM_014982.3
p.T564fs
c.1690_1691fs
1 paper
NM_014982.3
p.A594T
c.1780G>A
1 paper
NM_014982.3
p.H631D
c.1891C>G
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