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.P1886L

c.5657C>T

Surrounding Variants

2 papers

NM_001009944.3

p.E1885insFs

c.5653dupG

1 paper

NM_001009944.3

p.E1885insFs

c.5654_5655insTC

2 papers

NM_001009944.3

p.E1885fs

c.5653_5654fs

1 paper

NM_001009944.3

p.I1887I

c.5661C>T

1 paper

NM_001009944.3

p.A1883del1

c.5647_5648delCGC

2 papers

NM_001009944.3

p.E1884*

c.5650G>T

1 paper

NM_001009944.3

p.G1889S

c.5665G>A

1 paper

NM_001009944.3

p.G1889fs

c.5665_5666fs

1 paper

NM_001009944.3

p.G1889V

c.5666G>T

1 paper

NM_001009944.3

p.A1883V

c.5648C>T

1 paper

NM_001009944.3

p.G1889delFs

c.5666delC

1 paper

NM_001009944.3

p.T1882T

c.5646G>A