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.I479N

c.1436T>A

Surrounding Variants

1 paper

NM_000297.4

p.F480_C481delFs

c.1438_1442del5

1 paper

NM_000297.4

p.F480C

c.1439T>G

1 paper

NM_000297.4

p.C481S

c.1441T>A

1 paper

NM_000297.4

p.C481R

c.1441T>C

1 paper

NM_000297.4

p.C481fs

c.1441_1442fs

1 paper

NM_000297.4

p.C481S

c.1442G>C

11 papers

NM_000297.4

p.F482delFs

c.1445delT

2 papers

NM_000297.4

p.F482V

c.1444T>G

4 papers

NM_000297.4

p.F482fs

c.1444_1445fs

2 papers

NM_000297.4

p.C476S

c.1427G>C

17 papers

NM_000297.4

p.F482C

c.1445T>G

2 papers

NM_000297.4

p.F483insFs

c.1449dupT