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.R2746P

c.8237G>C

Surrounding Variants

1 paper

NM_001009944.3

p.S2745fs

c.8233_8234fs

1 paper

NM_001009944.3

p.S2745S

c.8235T>G

2 papers

NM_001009944.3

p.R2746delFs

c.8238delC

1 paper

NM_001009944.3

p.V2748M

c.8242G>A

2 papers

NM_001009944.3

p.P2744L

c.8231C>T

1 paper

NM_001009944.3

p.A2749V

c.8246C>T

1 paper

NM_001009944.3

p.A2749A

c.8247G>A

3 papers

NM_001009944.3

p.E2742K

c.8224G>A

2 papers

NM_001009944.3

p.Q2751*

c.8251C>T

1 paper

NM_001009944.3

p.A2741fs

c.8221_8222fs

1 paper

NM_001009944.3

p.A2752P

c.8254G>C

1 paper

NM_001009944.3

p.G2740G

c.8220A>G