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.R1494H

c.4481G>A

Surrounding Variants

1 paper

NM_001009944.3

p.R1494insFs

c.4480_4481ins7

1 paper

NM_001009944.3

p.R1494delFs

c.4481delC

1 paper

NM_001009944.3

p.R1494fs

c.4480_4481fs

1 paper

NM_001009944.3

p.G1493fs

c.4477_4478fs

1 paper

NM_001009944.3

p.R1492_G1493insFs

c.4476_4477insCA

1 paper

NM_001009944.3

p.P1495delFs

c.4485delG

2 papers

NM_001009944.3

p.R1492P

c.4475G>C

1 paper

NM_001009944.3

p.R1492C

c.4474C>T

1 paper

NM_001009944.3

p.S1497_Y1498insG

c.4489_4493ins3

1 paper

NM_001009944.3

p.Y1498N

c.4492T>A

1 paper

NM_001009944.3

p.V1490V

c.4470G>C

3 papers

NM_001009944.3

p.Y1498*

c.4494C>G