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

1–12 of 1285 variants

60 papers

NM_000297.4

p.R742*

c.2224C>T

54 papers

NM_000297.4

p.D511V

c.1532A>T

50 papers

NM_000297.4

p.R872*

c.2614C>T

42 papers

NM_000297.4

p.R306*

c.916C>T

33 papers

NM_000297.4

p.R322Q

c.965G>A

30 papers

NM_000297.4

p.R803*

c.2407C>T

29 papers

NM_000297.4

p.R464*

c.1390C>T

25 papers

NM_000297.4

p.R417*

c.1249C>T

24 papers

NM_000297.4

p.R28P

c.83G>C

24 papers

NM_000297.4

p.R322W

c.964C>T

22 papers

NM_000297.4

p.R320*

c.958C>T

22 papers

NM_000297.4

p.R807*

c.2419C>T