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

54 papers

NM_000297.4

p.D511V

c.1532A>T

Surrounding Variants

1 paper

NM_000297.4

p.D511insFs

c.1532_1533insAT

1 paper

NM_000297.4

p.D511fs

c.1531_1532fs

1 paper

NM_000297.4

p.I514_V516del0

c.1540_1548del9

1 paper

NM_000297.4

p.L510M

c.1528C>A

1 paper

NM_000297.4

p.L510_I514delFs

c.1529_1541del13

1 paper

NM_000297.4

p.C509*

c.1527T>A

1 paper

NM_000297.4

p.C509S

c.1526G>C

1 paper

NM_000297.4

p.C509S

c.1525T>A

2 papers

NM_000297.4

p.N508S

c.1523A>G

1 paper

NM_000297.4

p.C509_L510delFs

c.1525_1529del5

4 papers

NM_000297.4

p.W507*

c.1521G>A

3 papers

NM_000297.4

p.W507*

c.1520G>A