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.E838fs

c.2512_2513fs

Surrounding Variants

1 paper

NM_000297.4

p.E838*

c.2512G>T

1 paper

NM_000297.4

p.F839delFs

c.2517delT

15 papers

NM_000297.4

p.E837*

c.2509G>T

2 papers

NM_000297.4

p.F839V

c.2515T>G

5 papers

NM_000297.4

p.Y836*

c.2508C>A

1 paper

NM_000297.4

p.E837_E838insFs

c.2509_2512dup4

5 papers

NM_000297.4

p.Y836*

c.2508C>G

2 papers

NM_000297.4

p.Y836Y

c.2508C>T

2 papers

NM_000297.4

p.Q840*

c.2518C>T

1 paper

NM_000297.4

p.Q840fs

c.2518_2519fs

2 papers

NM_000297.4

p.Y836insFs

c.2507dupA

1 paper

NM_000297.4

p.V841fs

c.2521_2522fs