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.R2469C

c.7405C>T

Surrounding Variants

1 paper

NM_001009944.3

p.N2468N

c.7404C>T

1 paper

NM_001009944.3

p.N2468fs

c.7402_7403fs

3 papers

NM_001009944.3

p.N2468D

c.7402A>G

3 papers

NM_001009944.3

p.P2467delFs

c.7401delG

1 paper

NM_001009944.3

p.P2470Q

c.7409C>A

1 paper

NM_001009944.3

p.P2467L

c.7400C>T

3 papers

NM_001009944.3

p.P2471L

c.7412C>T

1 paper

NM_001009944.3

p.L2465_S2466delins

c.7394_7396delinsCGC

1 paper

NM_001009944.3

p.L2472insFs

c.7415_7416insA

1 paper

NM_001009944.3

p.P2470_L2472delFs

c.7408_7414del7

1 paper

NM_001009944.3

p.L2465P

c.7394T>C

1 paper

NM_001009944.3

p.L2465Q

c.7394T>A