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.S2100*

c.6299C>A

Surrounding Variants

3 papers

NM_001009944.3

p.S2100L

c.6299C>T

1 paper

NM_001009944.3

p.G2099G

c.6297G>T

1 paper

NM_001009944.3

p.F2096_G2099insFs

c.6286_6296dup11

1 paper

NM_001009944.3

p.D2098V

c.6293A>T

3 papers

NM_001009944.3

p.D2098G

c.6293A>G

1 paper

NM_001009944.3

p.D2098A

c.6293A>C

1 paper

NM_001009944.3

p.G2097delFs

c.6289delC

2 papers

NM_001009944.3

p.F2096_G2097del2

c.6286_6290del6

2 papers

NM_001009944.3

p.Q2103*

c.6307C>T

1 paper

NM_001009944.3

p.G2097V

c.6290G>T

2 papers

NM_001009944.3

p.G2097A

c.6290G>C

1 paper

NM_001009944.3

p.G2097E

c.6290G>A