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.T1596fs

c.4786_4787fs

Surrounding Variants

2 papers

NM_001009944.3

p.G1594delFs

c.4782delA

1 paper

NM_001009944.3

p.I1597V

c.4789A>G

1 paper

NM_001009944.3

p.P1595_T1596delFs

c.4785_4788del4

3 papers

NM_001009944.3

p.G1594fs

c.4780_4781fs

8 papers

NM_001009944.3

p.Y1599*

c.4797C>G

4 papers

NM_001009944.3

p.Y1599insFs

c.4796_4797insA

10 papers

NM_001009944.3

p.Y1599*

c.4797C>A

1 paper

NM_001009944.3

p.T1600fs

c.4798_4799fs

1 paper

NM_001009944.3

p.T1600A

c.4798A>G

1 paper

NM_001009944.3

p.Y1599delFs

c.4797delG

1 paper

NM_001009944.3

p.T1600insFs

c.4798dupA

1 paper

NM_001009944.3

p.T1600fs

c.4798_4799fs