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.L758V

c.2272C>G

Surrounding Variants

1 paper

NM_001009944.3

p.L758L

c.2272C>T

1 paper

NM_001009944.3

p.L758M

c.2272C>A

1 paper

NM_001009944.3

p.Q757P

c.2270A>C

2 papers

NM_001009944.3

p.Q757delFs

c.2269delG

1 paper

NM_001009944.3

p.E759fs

c.2275_2276fs

1 paper

NM_001009944.3

p.Q757fs

c.2269_2270fs

2 papers

NM_001009944.3

p.Q757*

c.2269C>T

1 paper

NM_001009944.3

p.G760V

c.2279G>T

1 paper

NM_001009944.3

p.P755L

c.2264C>T

1 paper

NM_001009944.3

p.H753L

c.2258A>T

1 paper

NM_001009944.3

p.W762delFs

c.2286delC

1 paper

NM_001009944.3

p.W762delFs

c.2285_2286delCC