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.A365Splc

c.1095-1G>A

Surrounding Variants

1 paper

NM_000297.4

p.A365Splc

c.1095-1G>T

1 paper

NM_000297.4

p.A365Splc

c.1095-2A>G

1 paper

NM_000297.4

p.A365Splc

c.1095-5A>G

1 paper

NM_000297.4

p.T369delFs

c.1105_1106delAC

1 paper

NM_000297.4

p.S370delFs

c.1108delA

1 paper

NM_000297.4

p.S370fs

c.1108_1109fs

1 paper

NM_000297.4

p.D373D

c.1119C>T

1 paper

NM_000297.4

p.L374M

c.1120T>A

1 paper

NM_000297.4

p.N375S

c.1124A>G

1 paper

NM_000297.4

p.S378_A384del7

c.1132_1151del21

1 paper

NM_000297.4

p.H379insFs

c.1135_1136dupCA

1 paper

NM_000297.4

p.H379R

c.1136A>G