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.E930*

c.2788G>T

Surrounding Variants

2 papers

NM_001009944.3

p.E929fs

c.2785_2786fs

1 paper

NM_001009944.3

p.A928V

c.2783C>T

1 paper

NM_001009944.3

p.T927T

c.2781G>A

1 paper

NM_001009944.3

p.T927M

c.2780C>T

1 paper

NM_001009944.3

p.C933fs

c.2797_2798fs

2 papers

NM_001009944.3

p.A928_I932delFs

c.2784_2796del13

1 paper

NM_001009944.3

p.C933Y

c.2798G>A

1 paper

NM_001009944.3

p.C933*

c.2799T>A

1 paper

NM_001009944.3

p.V926_T927insGA

c.2776_2780ins6

1 paper

NM_001009944.3

p.G934insFs

c.2801_2802insT

1 paper

NM_001009944.3

p.R925Q

c.2774G>A

1 paper

NM_001009944.3

p.G934fs

c.2800_2801fs