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.D810_D811del2

c.2428_2432del6

Surrounding Variants

7 papers

NM_000297.4

p.R807Q

c.2420G>A

3 papers

NM_000297.4

p.S808insFs

c.2422_2423insA

18 papers

NM_000297.4

p.S812A

c.2434T>G

4 papers

NM_000297.4

p.S812_E813insFs

c.2436_2437insT

22 papers

NM_000297.4

p.R807*

c.2419C>T

1 paper

NM_000297.4

p.E814delFs

c.2440delG

1 paper

NM_000297.4

p.E814fs

c.2440_2441fs

1 paper

NM_000297.4

p.F805_S808del4

c.2413_2423del12

3 papers

NM_000297.4

p.S804N

c.2411G>A

30 papers

NM_000297.4

p.R803*

c.2407C>T

2 papers

NM_000297.4

p.D817_E818del2

c.2449_2453del6

2 papers

NM_000297.4

p.S801G

c.2401A>G