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.S2990_Y2991del1

c.8970_8972delTAA

Surrounding Variants

7 papers

NM_001009944.3

p.Y2991*

c.8973C>G

1 paper

NM_001009944.3

p.Y2991insFs

c.8972dupA

7 papers

NM_001009944.3

p.Y2991*

c.8973C>A

1 paper

NM_001009944.3

p.H2992fs

c.8974_8975fs

1 paper

NM_001009944.3

p.Y2991del1

c.8971_8972delGTA

1 paper

NM_001009944.3

p.Y2991D

c.8971T>G

1 paper

NM_001009944.3

p.H2992delFs

c.8974_8975delTG

6 papers

NM_001009944.3

p.L2993P

c.8978T>C

1 paper

NM_001009944.3

p.G2989delFs

c.8967delC

4 papers

NM_001009944.3

p.A2988A

c.8964G>A

1 paper

NM_001009944.3

p.A2988V

c.8963C>T

1 paper

NM_001009944.3

p.A2988delFs

c.8962delC