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.Q848_V849insFs

c.2544_2547dup4

Surrounding Variants

1 paper

NM_001009944.3

p.D850fs

c.2548_2549fs

1 paper

NM_001009944.3

p.S851fs

c.2551_2552fs

1 paper

NM_001009944.3

p.S851delFs

c.2552_2553delAG

1 paper

NM_001009944.3

p.Q848*

c.2542C>T

2 papers

NM_001009944.3

p.L847P

c.2540T>C

1 paper

NM_001009944.3

p.L847delFs

c.2539delG

1 paper

NM_001009944.3

p.V846_L847Fs

c.2536_2540delinsAGTCCAFs

2 papers

NM_001009944.3

p.D850_A853delFs

c.2548_2557del10

2 papers

NM_001009944.3

p.V846_G852del7

c.2536_2555del21

1 paper

NM_001009944.3

p.A853A

c.2559C>T

1 paper

NM_001009944.3

p.L847fs

c.2539_2540fs

1 paper

NM_001009944.3

p.N854fs

c.2560_2561fs