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.L2223L

c.6667C>T

Surrounding Variants

1 paper

NM_001009944.3

p.L2223M

c.6667C>A

1 paper

NM_001009944.3

p.A2222_L2223delFs

c.6666_6667delGC

1 paper

NM_001009944.3

p.A2222A

c.6666G>T

1 paper

NM_001009944.3

p.A2222V

c.6665C>T

1 paper

NM_001009944.3

p.A2222delFs

c.6664delC

3 papers

NM_001009944.3

p.V2217_A2222del0

c.6650_6664del15

1 paper

NM_001009944.3

p.P2224fs

c.6670_6671fs

1 paper

NM_001009944.3

p.A2222fs

c.6664_6665fs

2 papers

NM_001009944.3

p.P2219_P2224ins2

c.6657_6671dup15

7 papers

NM_001009944.3

p.P2219_P2224del0

c.6657_6671del15

1 paper

NM_001009944.3

p.P2224del1

c.6670_6671delAGG

1 paper

NM_001009944.3

p.R2220_P2224del5

c.6658_6671del15