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.Q4004fs

c.12010_12011fs

Surrounding Variants

27 papers

NM_001009944.3

p.Q4004*

c.12010C>T

1 paper

NM_001009944.3

p.A4003insFs

c.12008dupC

1 paper

NM_001009944.3

p.Q4004delFs

c.12010delG

1 paper

NM_001009944.3

p.A4002_Q4004delFs

c.12006_12010del5

2 papers

NM_001009944.3

p.Q4004insFs

c.12011dupA

2 papers

NM_001009944.3

p.Q4005fs

c.12013_12014fs

6 papers

NM_001009944.3

p.Q4005*

c.12013C>T

2 papers

NM_001009944.3

p.A4002fs

c.12004_12005fs

1 paper

NM_001009944.3

p.Q4005R

c.12014A>G

1 paper

NM_001009944.3

p.Q4005fs

c.12013_12014fs

1 paper

NM_001009944.3

p.A4002G

c.12005C>G

2 papers

NM_001009944.3

p.K4001_A4002Splc

c.12004-1G>C