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.V4035M

c.12103G>A

Surrounding Variants

1 paper

NM_001009944.3

p.V4034delFs

c.12101delA

2 papers

NM_001009944.3

p.V4034delFs

c.12100delC

1 paper

NM_001009944.3

p.V4034fs

c.12100_12101fs

1 paper

NM_001009944.3

p.L4033delFs

c.12097delG

1 paper

NM_001009944.3

p.G4037fs

c.12109_12110fs

1 paper

NM_001009944.3

p.L4033V

c.12097C>G

1 paper

NM_001009944.3

p.G4032D

c.12095G>A

1 paper

NM_001009944.3

p.V4038fs

c.12112_12113fs

1 paper

NM_001009944.3

p.V4038insFs

c.12112_12113insG

1 paper

NM_001009944.3

p.V4038delFs

c.12112delC

3 papers

NM_001009944.3

p.L4031*

c.12092T>A

1 paper

NM_001009944.3

p.V4038fs

c.12112_12113fs