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.P357S

c.1069C>T

Surrounding Variants

1 paper

NM_000297.4

p.P357L

c.1070C>T

1 paper

NM_000297.4

p.A356insFs

c.1068dupT

10 papers

NM_000297.4

p.A356P

c.1066G>C

1 paper

NM_000297.4

p.A356fs

c.1066_1067fs

2 papers

NM_000297.4

p.F358C

c.1073T>G

1 paper

NM_000297.4

p.G359insFs

c.1076_1077ins7

1 paper

NM_000297.4

p.G359_G363del5

c.1075_1088del15

1 paper

NM_000297.4

p.A356delFs

c.1066delG

1 paper

NM_000297.4

p.G359_P360insTA

c.1075_1079ins6

1 paper

NM_000297.4

p.R361delFs

c.1081delC

1 paper

NM_000297.4

p.P360fs

c.1078_1079fs

1 paper

NM_000297.4

p.E353D

c.1059A>C