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.A879delFs

c.2637delG

Surrounding Variants

2 papers

NM_001009944.3

p.T880fs

c.2638_2639fs

1 paper

NM_001009944.3

p.T880T

c.2640C>T

1 paper

NM_001009944.3

p.A879G

c.2636C>G

1 paper

NM_001009944.3

p.V878del1

c.2632_2634delCAC

1 paper

NM_001009944.3

p.V878L

c.2632G>T

1 paper

NM_001009944.3

p.A876_L877insFs

c.2627_2631dup5

1 paper

NM_001009944.3

p.V878L

c.2632G>C

2 papers

NM_001009944.3

p.V878fs

c.2632_2633fs

1 paper

NM_001009944.3

p.A876_L877delFs

c.2627_2631del5

1 paper

NM_001009944.3

p.L877insFs

c.2630_2631ins5

1 paper

NM_001009944.3

p.L877Q

c.2630T>A

1 paper

NM_001009944.3

p.V882insFs

c.2644_2645dupGT