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.G140_S151delFs

c.419_452del34

Surrounding Variants

1 paper

NM_000297.4

p.R139R

c.417G>A

1 paper

NM_000297.4

p.G140fs

c.418_419fs

3 papers

NM_000297.4

p.G140delFs

c.420delG

1 paper

NM_000297.4

p.R139fs

c.415_416fs

13 papers

NM_000297.4

p.G140G

c.420G>A

1 paper

NM_000297.4

p.L141I

c.421C>A

1 paper

NM_000297.4

p.L141insFs

c.423dupT

2 papers

NM_000297.4

p.S138fs

c.412_413fs

1 paper

NM_000297.4

p.R139_L141delFs

c.415_421del7

1 paper

NM_000297.4

p.L141_G142delFs

c.423_424delTG

2 papers

NM_000297.4

p.L141Fs

c.423delinsTGFs

2 papers

NM_000297.4

p.G142delFs

c.424delG