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

Selected Variant

2 papers

NM_001009944.3

p.V2122fs

c.6364_6365fs

Surrounding Variants

1 paper

NM_001009944.3

p.V2122G

c.6365T>G

2 papers

NM_001009944.3

p.V2122delFs

c.6364delC

1 paper

NM_001009944.3

p.V2122fs

c.6364_6365fs

1 paper

NM_001009944.3

p.R2121H

c.6362G>A

4 papers

NM_001009944.3

p.Q2123*

c.6367C>T

2 papers

NM_001009944.3

p.Y2120H

c.6358T>C

1 paper

NM_001009944.3

p.V2124E

c.6371T>A

1 paper

NM_001009944.3

p.D2119delFs

c.6356delT

2 papers

NM_001009944.3

p.D2119G

c.6356A>G

2 papers

NM_001009944.3

p.D2119insFs

c.6356_6357insG

1 paper

NM_001009944.3

p.P2117H

c.6350C>A

1 paper

NM_001009944.3

p.S2127fs

c.6379_6380fs