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.D172delFs

c.514delG

Surrounding Variants

2 papers

NM_000297.4

p.G170G

c.510C>T

1 paper

NM_000297.4

p.G171insFs

c.512_513insGC

1 paper

NM_000297.4

p.G171G

c.513G>C

1 paper

NM_000297.4

p.D172H

c.514G>C

1 paper

NM_000297.4

p.D172fs

c.514_515fs

1 paper

NM_000297.4

p.D172E

c.516C>G

1 paper

NM_000297.4

p.V168A

c.503T>C

1 paper

NM_000297.4

p.S166C

c.496A>T

1 paper

NM_000297.4

p.H175_R176insFs

c.525_526ins7

1 paper

NM_000297.4

p.P165_G171del7

c.493_512del21

1 paper

NM_000297.4

p.C164S

c.491G>C

2 papers

NM_000297.4

p.P165delFs

c.495delC