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.T2447T

c.7341G>T

Surrounding Variants

1 paper

NM_001009944.3

p.L2448P

c.7343T>C

1 paper

NM_001009944.3

p.L2448L

c.7344C>G

1 paper

NM_001009944.3

p.F2446_T2447ins2

c.7338_7339ins6

1 paper

NM_001009944.3

p.F2446C

c.7337T>G

1 paper

NM_001009944.3

p.T2449insFs

c.7345dupA

2 papers

NM_001009944.3

p.V2450A

c.7349T>C

3 papers

NM_001009944.3

p.Y2444*

c.7332C>G

3 papers

NM_001009944.3

p.Y2444*

c.7332C>A

2 papers

NM_001009944.3

p.Y2444C

c.7331A>G

1 paper

NM_001009944.3

p.Y2444ins1

c.7330_7331insGAT

1 paper

NM_001009944.3

p.G2443delFs

c.7329delT

1 paper

NM_001009944.3

p.Y2444fs

c.7330_7331fs