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.A868V

c.2603C>T

Surrounding Variants

2 papers

NM_001009944.3

p.R869C

c.2605C>T

1 paper

NM_001009944.3

p.V866_S867insFs

c.2596_2600dup5

1 paper

NM_001009944.3

p.S867T

c.2600G>C

2 papers

NM_001009944.3

p.R869delFs

c.2605delG

1 paper

NM_001009944.3

p.R869fs

c.2605_2606fs

1 paper

NM_001009944.3

p.R869R

c.2607C>A

1 paper

NM_001009944.3

p.V866V

c.2598C>G

1 paper

NM_001009944.3

p.W861_V866Fs

c.2582_2596delinsTFs

1 paper

NM_001009944.3

p.E871*

c.2611G>T

1 paper

NM_001009944.3

p.F870insFs

c.2610dupT

2 papers

NM_001009944.3

p.G864delFs

c.2591delC

1 paper

NM_001009944.3

p.G864fs

c.2590_2591fs