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.P453P

c.1359A>G

Surrounding Variants

2 papers

NM_000297.4

p.S454P

c.1360T>C

4 papers

NM_000297.4

p.S454delFs

c.1362delT

5 papers

NM_000297.4

p.I452V

c.1354A>G

3 papers

NM_000297.4

p.W455*

c.1364G>A

4 papers

NM_000297.4

p.W455*

c.1365G>A

3 papers

NM_000297.4

p.Q456*

c.1366C>T

3 papers

NM_000297.4

p.G450D

c.1349G>A

1 paper

NM_000297.4

p.G450fs

c.1348_1349fs

1 paper

NM_000297.4

p.G450fs

c.1348_1349fs

3 papers

NM_000297.4

p.Q458*

c.1372C>T

1 paper

NM_000297.4

p.G449D

c.1346G>A

2 papers

NM_000297.4

p.G449insFs

c.1346dupG