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

3 papers

NM_000297.4

p.M1I

c.3G>A

Surrounding Variants

1 paper

NM_000297.4

p.M1I

c.3G>C

2 papers

NM_000297.4

p.M1I

c.3G>T

2 papers

NM_000297.4

p.M1K

c.2T>A

1 paper

NM_000297.4

p.M1Fs

c.2delinsGGFs

1 paper

NM_000297.4

p.V2insFs

c.4dupG

1 paper

NM_000297.4

p.M1insFs

c.2dupT

1 paper

NM_000297.4

p.M1V

c.1A>G

1 paper

NM_000297.4

p.V2G

c.5T>G

1 paper

NM_000297.4

p.V2insFs

c.5_6insA

1 paper

NM_000297.4

p.V2_N3ins1

c.6_7insGGG

1 paper

NM_000297.4

p.M1insFs

c.1dupA

1 paper

NM_000297.4

p.M1delFs

c.1_2delAT