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.V700delins

c.2099_2100delinsAA

Surrounding Variants

5 papers

NM_001009944.3

p.T701N

c.2102C>A

2 papers

NM_001009944.3

p.V700fs

c.2098_2099fs

1 paper

NM_001009944.3

p.S699_V700Splc

c.2098-1G>C

2 papers

NM_001009944.3

p.S699_V700Splc

c.2098-1G>A

1 paper

NM_001009944.3

p.T701insFs

c.2101_2102dupAC

1 paper

NM_001009944.3

p.T701fs

c.2101_2102fs

1 paper

NM_001009944.3

p.S699_V700Splc

c.2098-2A>G

1 paper

NM_001009944.3

p.L702fs

c.2104_2105fs

1 paper

NM_001009944.3

p.S699_V700Splc

c.2098-4A>G

2 papers

NM_001009944.3

p.H703H

c.2109C>T

1 paper

NM_001009944.3

p.S699_V700Splc

c.2098-10C>T

2 papers

NM_001009944.3

p.Q705*

c.2113C>T