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.Y348_S352del5

c.1042_1055del15

Surrounding Variants

1 paper

NM_000297.4

p.Y348C

c.1043A>G

2 papers

NM_000297.4

p.Y348F

c.1043A>T

4 papers

NM_000297.4

p.S349P

c.1045T>C

1 paper

NM_000297.4

p.Y345*

c.1035T>A

1 paper

NM_000297.4

p.Y345*

c.1035T>G

1 paper

NM_000297.4

p.V350delFs

c.1048delG

4 papers

NM_000297.4

p.Y345C

c.1034A>G

1 paper

NM_000297.4

p.V350fs

c.1048_1049fs

2 papers

NM_000297.4

p.Y345H

c.1033T>C

1 paper

NM_000297.4

p.V350delFs

c.1050delC

1 paper

NM_000297.4

p.S351fs

c.1051_1052fs

2 papers

NM_000297.4

p.C344S

c.1031G>C