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.S1448F

c.4343C>T

Surrounding Variants

1 paper

NM_001009944.3

p.T1446_S1448delFs

c.4336_4343del8

2 papers

NM_001009944.3

p.N1449D

c.4345A>G

4 papers

NM_001009944.3

p.A1447V

c.4340C>T

1 paper

NM_001009944.3

p.N1449I

c.4346A>T

1 paper

NM_001009944.3

p.T1446fs

c.4336_4337fs

1 paper

NM_001009944.3

p.V1445insFs

c.4335dupC

1 paper

NM_001009944.3

p.G1439_V1445del7

c.4315_4334del21

1 paper

NM_001009944.3

p.V1445V

c.4335C>A

6 papers

NM_001009944.3

p.N1450_I1451del1

c.4349_4351delTGT

1 paper

NM_001009944.3

p.V1443G

c.4328T>G

1 paper

NM_001009944.3

p.A1454T

c.4360G>A

1 paper

NM_001009944.3

p.G1439_L1442Fs

c.4315_4324delinsCAACTGTTGFs