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.G70_Q85del16

c.208_254del48

Surrounding Variants

2 papers

NM_000297.4

p.G70delFs

c.209delG

3 papers

NM_000297.4

p.A69fs

c.205_206fs

7 papers

NM_000297.4

p.A69fs

c.205_206fs

1 paper

NM_000297.4

p.P68P

c.204G>A

1 paper

NM_000297.4

p.A71delFs

c.213delC

1 paper

NM_000297.4

p.P68fs

c.202_203fs

1 paper

NM_000297.4

p.D66E

c.198C>A

1 paper

NM_000297.4

p.D66E

c.198C>G

1 paper

NM_000297.4

p.D66_P67Fs

c.198_199delinsAFs

1 paper

NM_000297.4

p.A72_A73insFs

c.216_217insA

19 papers

NM_000297.4

p.P68insFs

c.203_204insC

2 papers

NM_000297.4

p.P68delFs

c.203delC