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.G789G

c.2367A>G

Surrounding Variants

1 paper

NM_001009944.3

p.G789delFs

c.2365delC

1 paper

NM_001009944.3

p.P786delFs

c.2358delG

1 paper

NM_001009944.3

p.P793S

c.2377C>T

1 paper

NM_001009944.3

p.P786S

c.2356C>T

2 papers

NM_001009944.3

p.P786T

c.2356C>A

1 paper

NM_001009944.3

p.G794G

c.2382G>T

1 paper

NM_001009944.3

p.G783S

c.2347G>A

1 paper

NM_001009944.3

p.Y796C

c.2387A>G

1 paper

NM_001009944.3

p.E797K

c.2389G>A

1 paper

NM_001009944.3

p.E797insFs

c.2390dupA

1 paper

NM_001009944.3

p.L781L

c.2341C>T

2 papers

NM_001009944.3

p.R799fs

c.2395_2396fs