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.N305K

c.915C>G

Surrounding Variants

1 paper

NM_000297.4

p.N305K

c.915C>A

42 papers

NM_000297.4

p.R306*

c.916C>T

3 papers

NM_000297.4

p.R306Q

c.917G>A

1 paper

NM_000297.4

p.S307delFs

c.919delA

2 papers

NM_000297.4

p.N305_S307del3

c.913_920del9

1 paper

NM_000297.4

p.S307fs

c.919_920fs

1 paper

NM_000297.4

p.S307fs

c.919_920fs

1 paper

NM_000297.4

p.F308insFs

c.923dupT

1 paper

NM_000297.4

p.S307delFs

c.921delT

1 paper

NM_000297.4

p.D304del1

c.910_912delGAC

1 paper

NM_000297.4

p.E302_D304insFs

c.906_912dup7

3 papers

NM_000297.4

p.E302*

c.904G>T