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

2 papers

NM_000297.4

p.E850G

c.2549A>G

Surrounding Variants

1 paper

NM_000297.4

p.E850_I853delFs

c.2548_2557del10

1 paper

NM_000297.4

p.M849K

c.2546T>A

5 papers

NM_000297.4

p.R848Q

c.2543G>A

1 paper

NM_000297.4

p.R848_S852delFs

c.2542_2555del14

1 paper

NM_000297.4

p.G854del1

c.2560_2561delGGC

1 paper

NM_000297.4

p.I853I

c.2559C>T

1 paper

NM_000297.4

p.V846E

c.2537T>A

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.I856_A862del7

c.2566_2585del21

16 papers

NM_000297.4

p.R845*

c.2533C>T

1 paper

NM_000297.4

p.I856K

c.2567T>A