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

1 paper

NM_001009944.3

p.G2199delFs

c.6597delC

Surrounding Variants

11 papers

NM_001009944.3

p.R2200C

c.6598C>T

1 paper

NM_001009944.3

p.R2200fs

c.6598_6599fs

1 paper

NM_001009944.3

p.R2200H

c.6599G>A

1 paper

NM_001009944.3

p.G2199fs

c.6595_6596fs

1 paper

NM_001009944.3

p.Q2196_P2198insFs

c.6587_6593dup7

1 paper

NM_001009944.3

p.P2198delFs

c.6593delG

1 paper

NM_001009944.3

p.P2198L

c.6593C>T

1 paper

NM_001009944.3

p.P2198insFs

c.6593_6594ins7

1 paper

NM_001009944.3

p.P2201P

c.6603A>G

1 paper

NM_001009944.3

p.P2198fs

c.6592_6593fs

1 paper

NM_001009944.3

p.C2195_R2197delFs

c.6583_6590del8

2 papers

NM_001009944.3

p.A2202V

c.6605C>T