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.S125A

c.373T>G

Surrounding Variants

1 paper

NM_000297.4

p.R124K

c.371G>A

1 paper

NM_000297.4

p.A126_S128delFs

c.378_384del7

1 paper

NM_000297.4

p.R123G

c.367C>G

1 paper

NM_000297.4

p.R123W

c.367C>T

1 paper

NM_000297.4

p.R123delFs

c.369delG

1 paper

NM_000297.4

p.A127fs

c.379_380fs

1 paper

NM_000297.4

p.A127_S128ins1

c.381_382insATC

1 paper

NM_000297.4

p.S122T

c.365G>C

1 paper

NM_000297.4

p.S128_S129delFs

c.383_386del4

1 paper

NM_000297.4

p.G121A

c.362G>C

1 paper

NM_000297.4

p.G121fs

c.361_362fs

1 paper

NM_000297.4

p.G121C

c.361G>T