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.D1858delFs

c.5572delC

Surrounding Variants

1 paper

NM_001009944.3

p.D1858H

c.5572G>C

1 paper

NM_001009944.3

p.A1859A

c.5577T>C

1 paper

NM_001009944.3

p.V1855L

c.5563G>C

1 paper

NM_001009944.3

p.T1853_M1854del2

c.5557_5561del6

1 paper

NM_001009944.3

p.F1862del1

c.5584_5585delGAA

1 paper

NM_001009944.3

p.V1852G

c.5555T>G

2 papers

NM_001009944.3

p.V1852I

c.5554G>A

1 paper

NM_001009944.3

p.H1851delFs

c.5552_5553delAT

1 paper

NM_001009944.3

p.H1851fs

c.5551_5552fs

1 paper

NM_001009944.3

p.L1866fs

c.5596_5597fs

1 paper

NM_001009944.3

p.R1865delFs

c.5595delC

2 papers

NM_001009944.3

p.L1866P

c.5597T>C