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.R157*

c.469C>T

Surrounding Variants

1 paper

NM_000297.4

p.R154R

c.462G>A

3 papers

NM_000297.4

p.Q160*

c.478C>T

1 paper

NM_000297.4

p.R153K

c.458G>A

1 paper

NM_000297.4

p.G161_P167delFs

c.482_500del19

1 paper

NM_000297.4

p.P162A

c.484C>G

1 paper

NM_000297.4

p.P150L

c.449C>T

1 paper

NM_000297.4

p.C164S

c.490T>A

1 paper

NM_000297.4

p.C164S

c.491G>C

2 papers

NM_000297.4

p.P165delFs

c.495delC

1 paper

NM_000297.4

p.P165_G171del7

c.493_512del21

2 papers

NM_000297.4

p.H149Y

c.445C>T

1 paper

NM_000297.4

p.S166C

c.496A>T