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.F1683V

c.5047T>G

Surrounding Variants

1 paper

NM_001009944.3

p.S1684L

c.5051C>T

1 paper

NM_001009944.3

p.L1685F

c.5053C>T

1 paper

NM_001009944.3

p.L1685fs

c.5053_5054fs

1 paper

NM_001009944.3

p.G1680S

c.5038G>A

1 paper

NM_001009944.3

p.S1684_L1685delFs

c.5052_5055del4

2 papers

NM_001009944.3

p.S1679R

c.5037C>G

2 papers

NM_001009944.3

p.S1679R

c.5037C>A

1 paper

NM_001009944.3

p.R1672_S1679del0

c.5016_5036del21

2 papers

NM_001009944.3

p.S1679R

c.5035A>C

1 paper

NM_001009944.3

p.G1673_G1678delFs

c.5017_5033del17

1 paper

NM_001009944.3

p.D1671_A1677delFs

c.5013_5031del19

1 paper

NM_001009944.3

p.A1690T

c.5068G>A