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.D2789fs

c.8365_8366fs

Surrounding Variants

4 papers

NM_001009944.3

p.S2788fs

c.8362_8363fs

1 paper

NM_001009944.3

p.S2788S

c.8364G>A

1 paper

NM_001009944.3

p.S2788L

c.8363C>T

2 papers

NM_001009944.3

p.S2788W

c.8363C>G

1 paper

NM_001009944.3

p.S2788insFs

c.8362_8363ins14

3 papers

NM_001009944.3

p.S2788insFs

c.8362_8363ins34

1 paper

NM_001009944.3

p.S2788fs

c.8362_8363fs

1 paper

NM_001009944.3

p.P2790L

c.8369C>T

1 paper

NM_001009944.3

p.P2790fs

c.8368_8369fs

1 paper

NM_001009944.3

p.R2787P

c.8360G>C

1 paper

NM_001009944.3

p.P2790P

c.8370G>A

1 paper

NM_001009944.3

p.R2787H

c.8360G>A