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

2 papers

NM_000297.4

p.D817_E818del2

c.2449_2453del6

Surrounding Variants

1 paper

NM_000297.4

p.E814fs

c.2440_2441fs

1 paper

NM_000297.4

p.E814delFs

c.2440delG

1 paper

NM_000297.4

p.S820S

c.2460C>T

4 papers

NM_000297.4

p.S812_E813insFs

c.2436_2437insT

1 paper

NM_000297.4

p.G821*

c.2461G>T

18 papers

NM_000297.4

p.S812A

c.2434T>G

1 paper

NM_000297.4

p.H822_S832del11

c.2464_2495del33

1 paper

NM_000297.4

p.S824delFs

c.2470delT

1 paper

NM_000297.4

p.D810_D811del2

c.2428_2432del6

1 paper

NM_000297.4

p.S824insFs

c.2470_2471insG

1 paper

NM_000297.4

p.R826W

c.2476A>T

7 papers

NM_000297.4

p.R807Q

c.2420G>A