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

4 papers

NM_001009944.3

p.F1292L

c.3876C>G

Surrounding Variants

4 papers

NM_001009944.3

p.F1292L

c.3876C>A

1 paper

NM_001009944.3

p.V1293F

c.3877G>T

1 paper

NM_001009944.3

p.V1293I

c.3877G>A

4 papers

NM_001009944.3

p.F1292L

c.3874T>C

1 paper

NM_001009944.3

p.L1294delFs

c.3880delG

1 paper

NM_001009944.3

p.V1291_V1293delFs

c.3873_3879del7

2 papers

NM_001009944.3

p.E1295*

c.3883G>T

6 papers

NM_001009944.3

p.L1290V

c.3868C>G

1 paper

NM_001009944.3

p.V1289fs

c.3865_3866fs

1 paper

NM_001009944.3

p.V1289insFs

c.3865dupG

1 paper

NM_001009944.3

p.V1296G

c.3887T>G

1 paper

NM_001009944.3

p.V1289M

c.3865G>A