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.V841Splc

c.2523-1G>A

Surrounding Variants

1 paper

NM_000297.4

p.V841Splc

c.2523-1G>T

1 paper

NM_000297.4

p.V841Splc

c.2523-2A>T

1 paper

NM_000297.4

p.L842P

c.2525T>C

2 papers

NM_000297.4

p.V843delFs

c.2527delG

1 paper

NM_000297.4

p.V843fs

c.2527_2528fs

16 papers

NM_000297.4

p.R845*

c.2533C>T

2 papers

NM_000297.4

p.R845Q

c.2534G>A

1 paper

NM_000297.4

p.R845P

c.2534G>C

1 paper

NM_000297.4

p.V846E

c.2537T>A

1 paper

NM_000297.4

p.R848_S852delFs

c.2542_2555del14

5 papers

NM_000297.4

p.R848Q

c.2543G>A

1 paper

NM_000297.4

p.M849K

c.2546T>A