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.R3246delFs

c.9736delG

Surrounding Variants

3 papers

NM_001009944.3

p.R3246fs

c.9736_9737fs

6 papers

NM_001009944.3

p.R3247C

c.9739C>T

1 paper

NM_001009944.3

p.F3245L

c.9735C>G

1 paper

NM_001009944.3

p.F3245L

c.9735C>A

2 papers

NM_001009944.3

p.R3247H

c.9740G>A

1 paper

NM_001009944.3

p.F3245L

c.9733T>C

1 paper

NM_001009944.3

p.R3244H

c.9731G>A

2 papers

NM_001009944.3

p.L3249P

c.9746T>C

1 paper

NM_001009944.3

p.L3249Q

c.9746T>A

1 paper

NM_001009944.3

p.L3242L

c.9726T>G

1 paper

NM_001009944.3

p.L3242V

c.9724C>G

1 paper

NM_001009944.3

p.A3251T

c.9751G>A