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.G2983Splc

c.8948+11C>T

Surrounding Variants

1 paper

NM_001009944.3

p.G2983Splc

c.8948+15C>T

1 paper

NM_001009944.3

p.G2983Splc

c.8948+6C>G

4 papers

NM_001009944.3

p.G2983Splc

c.8948+5G>C

2 papers

NM_001009944.3

p.G2983Splc

c.8948+17A>G

1 paper

NM_001009944.3

p.G2983Splc

c.8948+1G>A

1 paper

NM_001009944.3

p.P2982insFs

c.8945dupC

1 paper

NM_001009944.3

p.P2982fs

c.8944_8945fs

1 paper

NM_001009944.3

p.P2982L

c.8945C>T

1 paper

NM_001009944.3

p.T2977_S2981del5

c.8929_8942del15

2 papers

NM_001009944.3

p.G2983Splc

c.8948+28G>T

11 papers

NM_001009944.3

p.F2979del1

c.8935_8936delGAA

1 paper

NM_001009944.3

p.F2979delFs

c.8936delA