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

5 papers

NM_001009944.3

p.L1357L

c.4071G>T

Surrounding Variants

4 papers

NM_001009944.3

p.L1357fs

c.4069_4070fs

5 papers

NM_001009944.3

p.L1357delFs

c.4070delA

4 papers

NM_001009944.3

p.L1357delFs

c.4069delG

2 papers

NM_001009944.3

p.L1357fs

c.4069_4070fs

1 paper

NM_001009944.3

p.L1357delFs

c.4071delC

1 paper

NM_001009944.3

p.P1356H

c.4067C>A

2 papers

NM_001009944.3

p.N1348_P1356delFs

c.4042_4066del25

1 paper

NM_001009944.3

p.F1355insFs

c.4064dupT

2 papers

NM_001009944.3

p.F1355V

c.4063T>G

2 papers

NM_001009944.3

p.T1350_G1353del4

c.4048_4058del12

1 paper

NM_001009944.3

p.L1361fs

c.4081_4082fs

1 paper

NM_001009944.3

p.N1348_G1353del6

c.4042_4058del18