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

3 papers

NM_000297.4

p.Y311fs

c.931_932fs

Surrounding Variants

3 papers

NM_000297.4

p.F310Fs

c.930delinsCTFs

5 papers

NM_000297.4

p.Y311*

c.933T>A

5 papers

NM_000297.4

p.Y311*

c.933T>G

3 papers

NM_000297.4

p.E312insFs

c.934_935insG

1 paper

NM_000297.4

p.E312_N313Fs

c.935_937delinsAFs

1 paper

NM_000297.4

p.E312*

c.934G>T

1 paper

NM_000297.4

p.F310fs

c.928_929fs

1 paper

NM_000297.4

p.L314V

c.940C>G

1 paper

NM_000297.4

p.L314insFs

c.942dupG

1 paper

NM_000297.4

p.F308insFs

c.923dupT

1 paper

NM_000297.4

p.L315delFs

c.943delC

1 paper

NM_000297.4

p.S307delFs

c.921delT