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.L1652Q

c.4955T>A

Surrounding Variants

2 papers

NM_001009944.3

p.L1652P

c.4955T>C

8 papers

NM_001009944.3

p.Q1653*

c.4957C>T

9 papers

NM_001009944.3

p.Q1651*

c.4951C>T

1 paper

NM_001009944.3

p.T1646_A1654ins3

c.4937_4960dup24

2 papers

NM_001009944.3

p.T1649M

c.4946C>T

1 paper

NM_001009944.3

p.V1656I

c.4966G>A

1 paper

NM_001009944.3

p.H1648delFs

c.4943delT

2 papers

NM_001009944.3

p.V1656A

c.4967T>C

1 paper

NM_001009944.3

p.V1656V

c.4968T>C

1 paper

NM_001009944.3

p.H1648fs

c.4942_4943fs

1 paper

NM_001009944.3

p.V1656_R1657Fs

c.4968_4969delinsCFs

1 paper

NM_001009944.3

p.V1655_V1656del2

c.4963_4967del6