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.G2403_R2404Splc

c.7210-9T>A

Surrounding Variants

1 paper

NM_001009944.3

p.G2403_R2404Splc

c.7210-10C>A

1 paper

NM_001009944.3

p.G2403_R2404Splc

c.7210-7C>T

1 paper

NM_001009944.3

p.G2403_R2404Splc

c.7210-16C>T

3 papers

NM_001009944.3

p.G2403_R2404Splc

c.7210-2A>G

2 papers

NM_001009944.3

p.G2403_R2404Splc

c.7210-1G>A

2 papers

NM_001009944.3

p.R2404W

c.7210C>T

1 paper

NM_001009944.3

p.R2404fs

c.7210_7211fs

1 paper

NM_001009944.3

p.R2404insFs

c.7211dupG

2 papers

NM_001009944.3

p.W2405L

c.7214G>T

1 paper

NM_001009944.3

p.W2405*

c.7214G>A

2 papers

NM_001009944.3

p.W2405C

c.7215G>T

2 papers

NM_001009944.3

p.W2405C

c.7215G>C