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.A1900V

c.5699C>T

Surrounding Variants

3 papers

NM_001009944.3

p.Q1903*

c.5707C>T

1 paper

NM_001009944.3

p.S1896R

c.5688C>G

1 paper

NM_001009944.3

p.S1896R

c.5688C>A

1 paper

NM_001009944.3

p.S1896R

c.5686A>C

1 paper

NM_001009944.3

p.S1895fs

c.5683_5684fs

1 paper

NM_001009944.3

p.L1890_A1894insFs

c.5669_5682dup14

1 paper

NM_001009944.3

p.L1892_A1894delFs

c.5675_5682del8

2 papers

NM_001009944.3

p.A1894A

c.5682C>T

1 paper

NM_001009944.3

p.W1893*

c.5679G>A

1 paper

NM_001009944.3

p.W1893*

c.5678G>A

1 paper

NM_001009944.3

p.L1892insFs

c.5676dupG

1 paper

NM_001009944.3

p.L1892delFs

c.5676delC