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

7 papers

NM_001009944.3

p.I2260del1

c.6778_6780delAAT

Surrounding Variants

2 papers

NM_001009944.3

p.E2261*

c.6781G>T

1 paper

NM_001009944.3

p.E2261fs

c.6781_6782fs

2 papers

NM_001009944.3

p.E2261delFs

c.6781delC

1 paper

NM_001009944.3

p.G2262delFs

c.6786delA

1 paper

NM_001009944.3

p.G2263fs

c.6787_6788fs

2 papers

NM_001009944.3

p.G2263A

c.6788G>C

2 papers

NM_001009944.3

p.S2264P

c.6790T>C

1 paper

NM_001009944.3

p.V2257insFs

c.6770dupT

2 papers

NM_001009944.3

p.V2257V

c.6771G>A

3 papers

NM_001009944.3

p.S2264*

c.6791C>G

2 papers

NM_001009944.3

p.S2264*

c.6791C>A

2 papers

NM_001009944.3

p.V2257G

c.6770T>G