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.R1142delFs

c.3426delC

Surrounding Variants

1 paper

NM_001009944.3

p.G1141_R1142del2

c.3421_3425del6

1 paper

NM_001009944.3

p.A1140_R1142delFs

c.3418_3424del7

1 paper

NM_001009944.3

p.R1142L

c.3425G>T

1 paper

NM_001009944.3

p.R1142P

c.3425G>C

1 paper

NM_001009944.3

p.R1142delFs

c.3424delG

2 papers

NM_001009944.3

p.R1142_P1143insFs

c.3425_3428dup4

2 papers

NM_001009944.3

p.R1142_P1143delFs

c.3425_3428del4

1 paper

NM_001009944.3

p.V1144I

c.3430G>A

1 paper

NM_001009944.3

p.R1142W

c.3424C>T

2 papers

NM_001009944.3

p.V1144fs

c.3430_3431fs

2 papers

NM_001009944.3

p.V1144fs

c.3430_3431fs

1 paper

NM_001009944.3

p.A1140insFs

c.3419dupC