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.V1229insFs

c.3686dupT

Surrounding Variants

1 paper

NM_001009944.3

p.V1229fs

c.3685_3686fs

1 paper

NM_001009944.3

p.V1229delFs

c.3685delC

1 paper

NM_001009944.3

p.V1230fs

c.3688_3689fs

1 paper

NM_001009944.3

p.E1224_V1230del0

c.3671_3688del18

1 paper

NM_001009944.3

p.V1229M

c.3685G>A

2 papers

NM_001009944.3

p.P1228delFs

c.3684delG

2 papers

NM_001009944.3

p.A1227S

c.3679G>T

1 paper

NM_001009944.3

p.G1226fs

c.3676_3677fs

1 paper

NM_001009944.3

p.A1233T

c.3697G>A

1 paper

NM_001009944.3

p.Q1225_G1226insFs

c.3675_3676insC

1 paper

NM_001009944.3

p.Q1225insFs

c.3674dupA

1 paper

NM_001009944.3

p.A1233A

c.3699C>T