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.G1673insFs

c.5018dupG

Surrounding Variants

1 paper

NM_001009944.3

p.G1673delFs

c.5018delC

1 paper

NM_001009944.3

p.P1674S

c.5020C>T

1 paper

NM_001009944.3

p.R1672_P1674insFs

c.5016_5020dup5

1 paper

NM_001009944.3

p.G1673fs

c.5017_5018fs

12 papers

NM_001009944.3

p.R1672fs

c.5014_5015fs

1 paper

NM_001009944.3

p.P1674fs

c.5020_5021fs

62 papers

NM_001009944.3

p.R1672delFs

c.5014_5015delCT

1 paper

NM_001009944.3

p.A1668_P1674Fs

c.5003_5022delinsGCCFs

1 paper

NM_001009944.3

p.R1672K

c.5015G>A

24 papers

NM_001009944.3

p.R1672fs

c.5014_5015fs

1 paper

NM_001009944.3

p.A1675V

c.5024C>T

1 paper

NM_001009944.3

p.R1672G

c.5014A>G