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.F1625L

c.4875C>G

Surrounding Variants

1 paper

NM_001009944.3

p.F1625L

c.4875C>A

1 paper

NM_001009944.3

p.F1625L

c.4873T>C

1 paper

NM_001009944.3

p.I1624fs

c.4870_4871fs

1 paper

NM_001009944.3

p.S1623insFs

c.4868_4869dupGC

1 paper

NM_001009944.3

p.Y1627fs

c.4879_4880fs

3 papers

NM_001009944.3

p.Y1627*

c.4881T>G

3 papers

NM_001009944.3

p.Y1627*

c.4881T>A

1 paper

NM_001009944.3

p.Y1627_V1628delFs

c.4880_4883del4

9 papers

NM_001009944.3

p.Q1630*

c.4888C>T

4 papers

NM_001009944.3

p.Q1621*

c.4861C>T

1 paper

NM_001009944.3

p.Q1630Q

c.4890G>A

1 paper

NM_001009944.3

p.S1619S

c.4857C>T