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.G2721Splc

c.8162-24C>T

Surrounding Variants

1 paper

NM_001009944.3

p.G2721Splc

c.8162-13C>T

1 paper

NM_001009944.3

p.G2721Splc

c.8162-37C>T

3 papers

NM_001009944.3

p.G2721Splc

c.8162-2A>T

2 papers

NM_001009944.3

p.G2721Splc

c.8162-2A>G

1 paper

NM_001009944.3

p.G2721R

c.8161G>C

4 papers

NM_001009944.3

p.G2721Splc

c.8162-1G>A

1 paper

NM_001009944.3

p.G2721Splc

c.8162-47C>G

1 paper

NM_001009944.3

p.L2726_A2727insC

c.8176_8180ins3

1 paper

NM_001009944.3

p.L2726P

c.8177T>C

1 paper

NM_001009944.3

p.A2727P

c.8179G>C

1 paper

NM_001009944.3

p.S2728insFs

c.8184dupC

1 paper

NM_001009944.3

p.S2729fs

c.8185_8186fs