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.S2017L

c.6050C>T

Surrounding Variants

1 paper

NM_001009944.3

p.S2017*

c.6050C>A

1 paper

NM_001009944.3

p.D2016E

c.6048C>G

1 paper

NM_001009944.3

p.D2016E

c.6048C>A

1 paper

NM_001009944.3

p.V2002_G2015del0

c.6005_6043del39

1 paper

NM_001009944.3

p.G2015S

c.6043G>A

1 paper

NM_001009944.3

p.I2020T

c.6059T>C

7 papers

NM_001009944.3

p.Q2014*

c.6040C>T

2 papers

NM_001009944.3

p.L2021P

c.6062T>C

2 papers

NM_001009944.3

p.Q2011*

c.6031C>T

5 papers

NM_001009944.3

p.R2024C

c.6070C>T

1 paper

NM_001009944.3

p.R2024fs

c.6070_6071fs

1 paper

NM_001009944.3

p.R2024fs

c.6070_6071fs