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.A862delFs

c.2584delG

Surrounding Variants

1 paper

NM_000297.4

p.D861A

c.2582A>C

1 paper

NM_000297.4

p.A862fs

c.2584_2585fs

1 paper

NM_000297.4

p.V863E

c.2588T>A

1 paper

NM_000297.4

p.I864delFs

c.2591delT

2 papers

NM_000297.4

p.S858Y

c.2573C>A

1 paper

NM_000297.4

p.V865M

c.2593G>A

1 paper

NM_000297.4

p.V865A

c.2594T>C

1 paper

NM_000297.4

p.I856K

c.2567T>A

2 papers

NM_000297.4

p.I856R

c.2567T>G

3 papers

NM_000297.4

p.L867P

c.2600T>C

1 paper

NM_000297.4

p.I856_A862del7

c.2566_2585del21

1 paper

NM_000297.4

p.I853I

c.2559C>T