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.E340_I341del1

c.1020_1022delAAT

Surrounding Variants

1 paper

NM_000297.4

p.E340G

c.1019A>G

1 paper

NM_000297.4

p.I341_Y345del5

c.1021_1034del15

1 paper

NM_000297.4

p.I341N

c.1022T>A

1 paper

NM_000297.4

p.D339fs

c.1015_1016fs

1 paper

NM_000297.4

p.R338_V347del0

c.1013_1039del27

1 paper

NM_000297.4

p.E343Q

c.1027G>C

2 papers

NM_000297.4

p.C344S

c.1030T>A

2 papers

NM_000297.4

p.C344S

c.1031G>C

2 papers

NM_000297.4

p.Y345H

c.1033T>C

4 papers

NM_000297.4

p.Y345C

c.1034A>G

1 paper

NM_000297.4

p.Q335fs

c.1003_1004fs

1 paper

NM_000297.4

p.Y345*

c.1035T>A