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.V4014delFs

c.12042delG

Surrounding Variants

1 paper

NM_001009944.3

p.F4015fs

c.12043_12044fs

2 papers

NM_001009944.3

p.V4014fs

c.12040_12041fs

1 paper

NM_001009944.3

p.F4015fs

c.12043_12044fs

1 paper

NM_001009944.3

p.G4016S

c.12046G>A

1 paper

NM_001009944.3

p.G4016fs

c.12046_12047fs

2 papers

NM_001009944.3

p.S4013S

c.12039C>T

1 paper

NM_001009944.3

p.S4013_V4014insFs

c.12039_12040insAC

2 papers

NM_001009944.3

p.G4016G

c.12048C>T

1 paper

NM_001009944.3

p.S4013P

c.12037T>C

6 papers

NM_001009944.3

p.W4012*

c.12036G>A

4 papers

NM_001009944.3

p.K4017N

c.12051G>T

4 papers

NM_001009944.3

p.K4017N

c.12051G>C