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.G2983Splc

c.8949-14C>G

Surrounding Variants

4 papers

NM_001009944.3

p.G2983Splc

c.8949-17A>G

1 paper

NM_001009944.3

p.G2983Splc

c.8949-20G>A

1 paper

NM_001009944.3

p.G2983Splc

c.8949-2A>G

1 paper

NM_001009944.3

p.G2983Splc

c.8949-2A>C

1 paper

NM_001009944.3

p.S2984fs

c.8950_8951fs

1 paper

NM_001009944.3

p.R2985*

c.8953A>T

2 papers

NM_001009944.3

p.R2985G

c.8953A>G

1 paper

NM_001009944.3

p.A2988fs

c.8962_8963fs

1 paper

NM_001009944.3

p.A2988V

c.8963C>T

1 paper

NM_001009944.3

p.A2988delFs

c.8962delC

4 papers

NM_001009944.3

p.A2988A

c.8964G>A

1 paper

NM_001009944.3

p.G2989delFs

c.8967delC