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.P733P

c.2199C>T

Surrounding Variants

1 paper

NM_001009944.3

p.A732fs

c.2194_2195fs

1 paper

NM_001009944.3

p.A732delFs

c.2194delC

1 paper

NM_001009944.3

p.P731L

c.2192C>T

1 paper

NM_001009944.3

p.S730L

c.2189C>T

1 paper

NM_001009944.3

p.S730*

c.2189C>A

1 paper

NM_001009944.3

p.C729Y

c.2186G>A

1 paper

NM_001009944.3

p.P738R

c.2213C>G

2 papers

NM_001009944.3

p.P738P

c.2214C>G

1 paper

NM_001009944.3

p.P736_G737del2

c.2206_2210del6

2 papers

NM_001009944.3

p.R739W

c.2215C>T

2 papers

NM_001009944.3

p.R739insFs

c.2215dupC

11 papers

NM_001009944.3

p.R739Q

c.2216G>A