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.D1205H

c.3613G>C

Surrounding Variants

1 paper

NM_001009944.3

p.V1206G

c.3617T>G

1 paper

NM_001009944.3

p.V1206delFs

c.3617delA

1 paper

NM_001009944.3

p.Q1203delFs

c.3607delG

5 papers

NM_001009944.3

p.Q1203*

c.3607C>T

1 paper

NM_001009944.3

p.A1202V

c.3605C>T

2 papers

NM_001009944.3

p.A1201_R1207delFs

c.3601_3620del20

1 paper

NM_001009944.3

p.A1202_Q1203insCT

c.3604_3608ins6

1 paper

NM_001009944.3

p.D1205_V1208delFs

c.3613_3622del10

2 papers

NM_001009944.3

p.A1201V

c.3602C>T

3 papers

NM_001009944.3

p.V1208_F1209insFs

c.3624_3625ins4

1 paper

NM_001009944.3

p.G1199_A1201delFs

c.3597_3601del5

1 paper

NM_001009944.3

p.G1199_A1201delFs

c.3595_3601del7