Varaico: Literature-Extracted Genetic Variants

PKD2

834 papers

RefSeq Summary

This gene encodes a member of the polycystin protein family. The encoded protein is a multi-pass membrane protein that functions as a calcium permeable cation channel, and is involved in calcium trans...

Pfam Domains

Polycystin_domaa 269–463UCSCPolycystin domain

PKD_channelaa 464–687UCSCPolycystin cation channel

Fer4_24aa 834–868UCSCFerredoxin I 4Fe-4S cluster domain

Gene Aliases

HGNC Name

polycystin 2, transient receptor potential cation channel

HGNC Alias Symbols

PKD4; PC2; Pc-2; TRPP2

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_000297.4

p.A15_P21delFs

c.43_62del20

Surrounding Variants

1 paper

NM_000297.4

p.D14G

c.41A>G

1 paper

NM_000297.4

p.A15T

c.43G>A

1 paper

NM_000297.4

p.A15S

c.43G>T

1 paper

NM_000297.4

p.G13R

c.37G>A

1 paper

NM_000297.4

p.G13R

c.37G>C

1 paper

NM_000297.4

p.G13_D25del13

c.37_74del39

1 paper

NM_000297.4

p.P12T

c.34C>A

2 papers

NM_000297.4

p.P12A

c.34C>G

1 paper

NM_000297.4

p.R17G

c.49C>G

1 paper

NM_000297.4

p.Q11_P12insC

c.31_35ins3

1 paper

NM_000297.4

p.R17R

c.51G>A

1 paper

NM_000297.4

p.P18A

c.52C>G