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.V1662fs

c.4984_4985fs

Surrounding Variants

1 paper

NM_001009944.3

p.V1662I

c.4984G>A

1 paper

NM_001009944.3

p.N1661del1

c.4981_4982delGTT

1 paper

NM_001009944.3

p.V1662delFs

c.4984delC

1 paper

NM_001009944.3

p.Y1664D

c.4990T>G

1 paper

NM_001009944.3

p.G1659G

c.4977C>T

2 papers

NM_001009944.3

p.S1663_Y1664del1

c.4988_4990delAGG

2 papers

NM_001009944.3

p.G1659D

c.4976G>A

1 paper

NM_001009944.3

p.W1666G

c.4996T>G

1 paper

NM_001009944.3

p.S1665delFs

c.4995delG

2 papers

NM_001009944.3

p.R1657fs

c.4969_4970fs

2 papers

NM_001009944.3

p.W1666S

c.4997G>C

3 papers

NM_001009944.3

p.W1666*

c.4997G>A