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.T1649M

c.4946C>T

Surrounding Variants

1 paper

NM_001009944.3

p.H1648delFs

c.4943delT

1 paper

NM_001009944.3

p.H1648fs

c.4942_4943fs

9 papers

NM_001009944.3

p.Q1651*

c.4951C>T

2 papers

NM_001009944.3

p.L1652P

c.4955T>C

1 paper

NM_001009944.3

p.L1652Q

c.4955T>A

1 paper

NM_001009944.3

p.T1646fs

c.4936_4937fs

1 paper

NM_001009944.3

p.P1645delFs

c.4935delG

1 paper

NM_001009944.3

p.F1644_P1645del2

c.4930_4934del6

8 papers

NM_001009944.3

p.Q1653*

c.4957C>T

1 paper

NM_001009944.3

p.F1644fs

c.4930_4931fs

1 paper

NM_001009944.3

p.G1641_Y1643insFs

c.4923_4929dup7

1 paper

NM_001009944.3

p.T1646_A1654ins3

c.4937_4960dup24