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.D1709Y

c.5125G>T

Surrounding Variants

1 paper

NM_001009944.3

p.C1710fs

c.5128_5129fs

4 papers

NM_001009944.3

p.W1707*

c.5121G>A

4 papers

NM_001009944.3

p.W1707*

c.5120G>A

1 paper

NM_001009944.3

p.C1710delFs

c.5128_5129delCA

1 paper

NM_001009944.3

p.A1706V

c.5117C>T

1 paper

NM_001009944.3

p.M1712V

c.5134A>G

1 paper

NM_001009944.3

p.S1705fs

c.5113_5114fs

1 paper

NM_001009944.3

p.G1704delFs

c.5112delG

1 paper

NM_001009944.3

p.D1713E

c.5139C>G

1 paper

NM_001009944.3

p.D1713E

c.5139C>A

1 paper

NM_001009944.3

p.F1714L

c.5140T>C

1 paper

NM_001009944.3

p.F1714fs

c.5140_5141fs