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.F472fs

c.1414_1415fs

Surrounding Variants

1 paper

NM_000297.4

p.F471del1

c.1411_1412delTTC

1 paper

NM_000297.4

p.A474S

c.1420G>T

1 paper

NM_000297.4

p.A474A

c.1422A>T

1 paper

NM_000297.4

p.T468I

c.1403C>T

1 paper

NM_000297.4

p.F469delFs

c.1407delT

2 papers

NM_000297.4

p.C476S

c.1426T>A

2 papers

NM_000297.4

p.C476S

c.1427G>C

1 paper

NM_000297.4

p.T467A

c.1399A>G

2 papers

NM_000297.4

p.Y465*

c.1395T>A

2 papers

NM_000297.4

p.Y465*

c.1395T>G

2 papers

NM_000297.4

p.Y465C

c.1394A>G

1 paper

NM_000297.4

p.R464R

c.1392A>G