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

6 papers

NM_000297.4

p.V516L

c.1546G>C

Surrounding Variants

6 papers

NM_000297.4

p.V516L

c.1546G>T

1 paper

NM_000297.4

p.V516del1

c.1546_1547delGTG

1 paper

NM_000297.4

p.V515A

c.1544T>C

3 papers

NM_000297.4

p.V516_L517Splc

c.1548+1G>A

1 paper

NM_000297.4

p.V516_L517Splc

c.1548+5G>A

1 paper

NM_000297.4

p.V516_L517Splc

c.1548+5G>C

1 paper

NM_000297.4

p.V516_L517Splc

c.1548+9G>C

1 paper

NM_000297.4

p.I514_V516del0

c.1540_1548del9

1 paper

NM_000297.4

p.D511insFs

c.1532_1533insAT

54 papers

NM_000297.4

p.D511V

c.1532A>T

1 paper

NM_000297.4

p.D511fs

c.1531_1532fs

1 paper

NM_000297.4

p.L510M

c.1528C>A