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.M1247fs

c.3739_3740fs

Surrounding Variants

2 papers

NM_001009944.3

p.M1247V

c.3739A>G

1 paper

NM_001009944.3

p.M1247I

c.3741G>T

1 paper

NM_001009944.3

p.M1247I

c.3741G>C

1 paper

NM_001009944.3

p.M1247I

c.3741G>A

1 paper

NM_001009944.3

p.M1247delFs

c.3739_3740delAT

1 paper

NM_001009944.3

p.G1248R

c.3742G>C

1 paper

NM_001009944.3

p.G1248R

c.3742G>A

2 papers

NM_001009944.3

p.F1245_M1247delFs

c.3735_3741del7

2 papers

NM_001009944.3

p.G1248A

c.3743G>C

2 papers

NM_001009944.3

p.F1245fs

c.3733_3734fs

1 paper

NM_001009944.3

p.D1249G

c.3746A>G

1 paper

NM_001009944.3

p.G1248_D1249insFs

c.3744_3745dupGG