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.A1454T

c.4360G>A

Surrounding Variants

6 papers

NM_001009944.3

p.N1450_I1451del1

c.4349_4351delTGT

2 papers

NM_001009944.3

p.S1457*

c.4370C>G

1 paper

NM_001009944.3

p.S1457*

c.4370C>A

3 papers

NM_001009944.3

p.S1457fs

c.4369_4370fs

5 papers

NM_001009944.3

p.S1457delFs

c.4369_4370delGA

1 paper

NM_001009944.3

p.A1458V

c.4373C>T

1 paper

NM_001009944.3

p.A1458fs

c.4372_4373fs

1 paper

NM_001009944.3

p.N1449I

c.4346A>T

1 paper

NM_001009944.3

p.L1459L

c.4375C>T

2 papers

NM_001009944.3

p.N1449D

c.4345A>G

1 paper

NM_001009944.3

p.T1446_S1448delFs

c.4336_4343del8

1 paper

NM_001009944.3

p.L1459delFs

c.4376delA