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

2 papers

NM_001009944.3

p.E1100_Y1101delFs

c.3298_3301del4

Surrounding Variants

2 papers

NM_001009944.3

p.Y1101C

c.3302A>G

1 paper

NM_001009944.3

p.E1100fs

c.3298_3299fs

1 paper

NM_001009944.3

p.L1102V

c.3304C>G

1 paper

NM_001009944.3

p.L1102fs

c.3304_3305fs

1 paper

NM_001009944.3

p.L1102insFs

c.3304dupC

1 paper

NM_001009944.3

p.E1100fs

c.3298_3299fs

1 paper

NM_001009944.3

p.G1099D

c.3296G>A

2 papers

NM_001009944.3

p.G1099Splc

c.3296-1G>T

4 papers

NM_001009944.3

p.G1099Splc

c.3296-1G>A

2 papers

NM_001009944.3

p.G1099Splc

c.3296-2A>T

3 papers

NM_001009944.3

p.G1099Splc

c.3296-2A>G

3 papers

NM_001009944.3

p.G1099Splc

c.3296-2A>C