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

14 papers

NM_001009944.3

p.I4045V

c.12133A>G

NM_000296.4

p.I4044V

c.12130A>G

Surrounding Variants

2 papers

NM_001009944.3

p.I4045T

c.12134T>C

2 papers

NM_001009944.3

p.L4046P

c.12137T>C

3 papers

NM_001009944.3

p.L4046_L4047Splc

c.12138+1G>C

1 paper

NM_001009944.3

p.L4043fs

c.12127_12128fs

1 paper

NM_000296.4

p.L4042L

c.12124C>T

1 paper

NM_001009944.3

p.Q4042insFs

c.12126dupG

3 papers

NM_001009944.3

p.A4041_Q4042del2

c.12121_12125del6

1 paper

NM_001009944.3

p.L4046_L4047Splc

c.12138+2T>G

2 papers

NM_001009944.3

p.L4046_L4047Splc

c.12138+2T>C

1 paper

NM_001009944.3

p.Q4042fs

c.12124_12125fs

1 paper

NM_001009944.3

p.A4041_Q4042insFs

c.12123_12124dupCC

19 papers

NM_001009944.3

p.Q4042*

c.12124C>T