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.P797insFs

c.2390dupC

Surrounding Variants

1 paper

NM_000297.4

p.L796*

c.2387T>A

1 paper

NM_000297.4

p.L796*

c.2387T>G

2 papers

NM_000297.4

p.R798C

c.2392C>T

1 paper

NM_000297.4

p.S795F

c.2384C>T

1 paper

NM_000297.4

p.S795A

c.2383T>G

1 paper

NM_000297.4

p.P799A

c.2395C>G

1 paper

NM_000297.4

p.P799S

c.2395C>T

1 paper

NM_000297.4

p.S794N

c.2381G>A

2 papers

NM_000297.4

p.P799R

c.2396C>G

3 papers

NM_000297.4

p.P799L

c.2396C>T

8 papers

NM_000297.4

p.M800L

c.2398A>C

7 papers

NM_000297.4

p.M800L

c.2398A>T