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.R440Splc

c.1320-1G>A

Surrounding Variants

1 paper

NM_000297.4

p.R440Splc

c.1320-1G>C

1 paper

NM_000297.4

p.R440Splc

c.1320-2A>T

9 papers

NM_000297.4

p.R440S

c.1320G>T

1 paper

NM_000297.4

p.R440Splc

c.1320-3C>G

1 paper

NM_000297.4

p.L441fs

c.1321_1322fs

1 paper

NM_000297.4

p.L441insFs

c.1321_1322ins13

2 papers

NM_000297.4

p.L442delFs

c.1325delT

1 paper

NM_000297.4

p.R440Splc

c.1320-5T>G

1 paper

NM_000297.4

p.L442fs

c.1324_1325fs

1 paper

NM_000297.4

p.V443D

c.1328T>A

1 paper

NM_000297.4

p.E444K

c.1330G>A

2 papers

NM_000297.4

p.E444A

c.1331A>C