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.A1790V

c.5369C>T

Surrounding Variants

1 paper

NM_001009944.3

p.A1790ins1

c.5368_5369insAGT

1 paper

NM_001009944.3

p.S1789insFs

c.5367dupA

1 paper

NM_001009944.3

p.A1790fs

c.5368_5369fs

1 paper

NM_001009944.3

p.A1792T

c.5374G>A

1 paper

NM_001009944.3

p.L1787fs

c.5359_5360fs

1 paper

NM_001009944.3

p.L1787L

c.5359C>T

1 paper

NM_001009944.3

p.P1786_L1787insFs

c.5358_5359insCC

1 paper

NM_001009944.3

p.T1793delFs

c.5379delG

1 paper

NM_001009944.3

p.P1786delFs

c.5357delG

3 papers

NM_001009944.3

p.P1786L

c.5357C>T

1 paper

NM_001009944.3

p.V1794fs

c.5380_5381fs

1 paper

NM_001009944.3

p.P1786fs

c.5356_5357fs