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.C82S

c.245G>C

Surrounding Variants

1 paper

NM_000297.4

p.C82S

c.244T>A

1 paper

NM_000297.4

p.S83_R84insFs

c.249_250dupCC

1 paper

NM_000297.4

p.R84delFs

c.250delC

2 papers

NM_000297.4

p.S81*

c.242C>A

1 paper

NM_000297.4

p.R84fs

c.250_251fs

2 papers

NM_000297.4

p.S80*

c.239C>A

2 papers

NM_000297.4

p.S80A

c.238T>G

1 paper

NM_000297.4

p.Q85fs

c.253_254fs

1 paper

NM_000297.4

p.P78L

c.233C>T

1 paper

NM_000297.4

p.P77_P78insFs

c.231_232insC

1 paper

NM_000297.4

p.P77L

c.230C>T

3 papers

NM_000297.4

p.W87*

c.260G>A