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.W118*

c.354G>A

Surrounding Variants

1 paper

NM_000297.4

p.W118*

c.353G>A

2 papers

NM_000297.4

p.R119H

c.356G>A

1 paper

NM_000297.4

p.P120_G121delFs

c.359_363del5

1 paper

NM_000297.4

p.P120insFs

c.359_360insTA

1 paper

NM_000297.4

p.P120L

c.359C>T

1 paper

NM_000297.4

p.G121delFs

c.362delG

1 paper

NM_000297.4

p.G121fs

c.361_362fs

1 paper

NM_000297.4

p.G121C

c.361G>T

1 paper

NM_000297.4

p.G121A

c.362G>C

1 paper

NM_000297.4

p.V116_W118delFs

c.348_352del5

1 paper

NM_000297.4

p.S122T

c.365G>C

1 paper

NM_000297.4

p.R123G

c.367C>G