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.G1691A

c.5072G>C

Surrounding Variants

1 paper

NM_001009944.3

p.A1690V

c.5069C>T

1 paper

NM_001009944.3

p.A1690T

c.5068G>A

3 papers

NM_001009944.3

p.Y1693*

c.5079C>G

3 papers

NM_001009944.3

p.Y1693*

c.5079C>A

1 paper

NM_001009944.3

p.H1694Y

c.5080C>T

7 papers

NM_001009944.3

p.Q1696*

c.5086C>T

1 paper

NM_001009944.3

p.S1684_L1685delFs

c.5052_5055del4

1 paper

NM_001009944.3

p.L1697R

c.5090T>G

1 paper

NM_001009944.3

p.L1685F

c.5053C>T

1 paper

NM_001009944.3

p.L1685fs

c.5053_5054fs

1 paper

NM_001009944.3

p.R1698W

c.5092C>T

1 paper

NM_001009944.3

p.R1698_A1699insT

c.5092_5096ins3