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.G93_E95delins

c.278_284delinsAGGAGGAGGTTATCCTCCTCCTCCCCGC

Surrounding Variants

1 paper

NM_000297.4

p.G93fs

c.277_278fs

2 papers

NM_000297.4

p.E95*

c.283G>T

1 paper

NM_000297.4

p.E95delFs

c.284delA

2 papers

NM_000297.4

p.P92delFs

c.276delC

1 paper

NM_000297.4

p.D90E

c.270T>A

1 paper

NM_000297.4

p.D90E

c.270T>G

2 papers

NM_000297.4

p.E102_V103ins0

c.305_307dupAGG

3 papers

NM_000297.4

p.E102del1

c.304_305delGAG

1 paper

NM_000297.4

p.D90N

c.268G>A

1 paper

NM_000297.4

p.R89H

c.266G>A

3 papers

NM_000297.4

p.R89C

c.265C>T

1 paper

NM_000297.4

p.R89fs

c.265_266fs