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

3 papers

NM_000297.4

p.A365V

c.1094C>T

Surrounding Variants

20 papers

NM_000297.4

p.A365Splc

c.1094+1G>A

3 papers

NM_000297.4

p.A365Splc

c.1094+1G>C

1 paper

NM_000297.4

p.A365Splc

c.1094+1G>T

2 papers

NM_000297.4

p.A365fs

c.1093_1094fs

1 paper

NM_000297.4

p.A365Splc

c.1094+2T>G

1 paper

NM_000297.4

p.T364N

c.1091C>A

2 papers

NM_000297.4

p.T364delFs

c.1092delC

1 paper

NM_000297.4

p.G363fs

c.1087_1088fs

1 paper

NM_000297.4

p.G363delFs

c.1088delG

1 paper

NM_000297.4

p.R361Q

c.1082G>A

13 papers

NM_000297.4

p.R361*

c.1081C>T

1 paper

NM_000297.4

p.P360fs

c.1078_1079fs