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.L2487P

c.7460T>C

Surrounding Variants

1 paper

NM_001009944.3

p.T2488I

c.7463C>T

1 paper

NM_001009944.3

p.V2484G

c.7451T>G

1 paper

NM_001009944.3

p.A2483V

c.7448C>T

1 paper

NM_001009944.3

p.L2481delFs

c.7442_7443delCA

1 paper

NM_001009944.3

p.H2492H

c.7476C>T

1 paper

NM_001009944.3

p.K2490_H2492del0

c.7470_7475del6

1 paper

NM_001009944.3

p.F2493L

c.7477T>C

1 paper

NM_001009944.3

p.L2481fs

c.7441_7442fs

8 papers

NM_001009944.3

p.L2481L

c.7441C>T

1 paper

NM_001009944.3

p.F2493L

c.7479C>G

1 paper

NM_001009944.3

p.F2493L

c.7479C>A

1 paper

NM_001009944.3

p.F2493delins

c.7478_7479delinsAG