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.V2251insFs

c.6751_6752ins19

Surrounding Variants

1 paper

NM_001009944.3

p.V2251fs

c.6751_6752fs

11 papers

NM_001009944.3

p.T2250M

c.6749C>T

5 papers

NM_001009944.3

p.V2251del1

c.6751_6752delCAC

1 paper

NM_001009944.3

p.N2248insFs

c.6743_6744dupAT

1 paper

NM_001009944.3

p.V2249fs

c.6745_6746fs

1 paper

NM_001009944.3

p.P2253P

c.6759C>T

1 paper

NM_001009944.3

p.P2253P

c.6759C>A

1 paper

NM_001009944.3

p.N2248insFs

c.6743dupA

1 paper

NM_001009944.3

p.E2254*

c.6760G>T

1 paper

NM_001009944.3

p.E2254K

c.6760G>A

2 papers

NM_001009944.3

p.P2253delFs

c.6759delG

1 paper

NM_001009944.3

p.N2248S

c.6743A>G