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

15 papers

NM_001009944.3

p.R2434W

c.7300C>T

Surrounding Variants

1 paper

NM_001009944.3

p.R2434Q

c.7301G>A

4 papers

NM_001009944.3

p.L2433del1

c.7297_7298delCAG

1 paper

NM_001009944.3

p.L2433R

c.7298T>G

1 paper

NM_001009944.3

p.V2432L

c.7294G>T

1 paper

NM_001009944.3

p.V2432L

c.7294G>C

1 paper

NM_001009944.3

p.L2431P

c.7292T>C

4 papers

NM_001009944.3

p.L2431Q

c.7292T>A

1 paper

NM_001009944.3

p.G2436G

c.7308C>T

1 paper

NM_001009944.3

p.V2432_G2436Fs

c.7294_7308delinsAGFs

1 paper

NM_001009944.3

p.V2437L

c.7309G>T

1 paper

NM_001009944.3

p.V2437L

c.7309G>C

1 paper

NM_001009944.3

p.L2433_G2436del0

c.7297_7308del12