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.A1202_Q1203insCT

c.3604_3608ins6

Surrounding Variants

1 paper

NM_001009944.3

p.A1202V

c.3605C>T

2 papers

NM_001009944.3

p.A1201V

c.3602C>T

1 paper

NM_001009944.3

p.G1199_A1201delFs

c.3597_3601del5

1 paper

NM_001009944.3

p.G1199_A1201delFs

c.3595_3601del7

1 paper

NM_001009944.3

p.A1201fs

c.3601_3602fs

5 papers

NM_001009944.3

p.Q1203*

c.3607C>T

1 paper

NM_001009944.3

p.A1200A

c.3600G>A

1 paper

NM_001009944.3

p.Q1203delFs

c.3607delG

1 paper

NM_001009944.3

p.A1200G

c.3599C>G

1 paper

NM_001009944.3

p.G1199_A1200delFs

c.3597_3598delCA

2 papers

NM_001009944.3

p.A1200fs

c.3598_3599fs

2 papers

NM_001009944.3

p.D1205H

c.3613G>C