Varaico: Literature-Extracted Genetic Variants

PKD1

1,465 papers

RefSeq Summary

This gene encodes a member of the polycystin protein family. The encoded glycoprotein contains a large N-terminal extracellular region, multiple transmembrane domains and a cytoplasmic C-tail. It is a...

Pfam Domains

LRR_8aa 69–127UCSCLeucine rich repeat

WSCaa 180–261UCSCWSC domain

PKDaa 274–352UCSCPKD domain

Lectin_Caa 425–532UCSCLectin C-type domain

PKDaa 934–1013UCSCPKD domain

PKDaa 1021–1122UCSCPKD domain

Gene Aliases

HGNC Name

polycystin 1, transient receptor potential channel interacting

HGNC Alias Symbols

PBP; Pc-1; TRPP1

Papers

RefSeq ID

Protein change

DNA change

1–12 of 7050 variants

100 papers

NM_001009944.3

p.R3277C

c.9829C>T

63 papers

NM_001009944.3

p.E2771K

c.8311G>A

62 papers

NM_001009944.3

p.R1672delFs

c.5014_5015delCT

32 papers

NM_001009944.3

p.R2430*

c.7288C>T

31 papers

NM_001009944.3

p.L727P

c.2180T>C

29 papers

NM_001009944.3

p.R2765C

c.8293C>T

27 papers

NM_001009944.3

p.L845S

c.2534T>C

27 papers

NM_001009944.3

p.Q4004*

c.12010C>T

24 papers

NM_001009944.3

p.R1672fs

c.5014_5015fs

23 papers

NM_001009944.3

p.R2163*

c.6487C>T

21 papers

NM_001009944.3

p.R1436*

c.4306C>T

21 papers

NM_001009944.3

p.F3066L

c.9196T>C