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.R2434_L2438ins1

c.7301_7312dup12

Surrounding Variants

1 paper

NM_001009944.3

p.G2436del1

c.7306_7307delGCC

1 paper

NM_001009944.3

p.R2439Q

c.7316G>A

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

1 paper

NM_001009944.3

p.R2435_R2439ins1

c.7303_7317dup15

4 papers

NM_001009944.3

p.R2435_R2439del0

c.7303_7317del15

1 paper

NM_001009944.3

p.G2436G

c.7308C>T

1 paper

NM_001009944.3

p.V2432_G2436Fs

c.7294_7308delinsAGFs

2 papers

NM_001009944.3

p.D2440fs

c.7318_7319fs

1 paper

NM_001009944.3

p.D2440delFs

c.7318delC

1 paper

NM_001009944.3

p.R2434_L2438del0

c.7302_7313del12