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

3 papers

NM_001009944.3

p.T2183_E2184insFs

c.6549_6550insT

Surrounding Variants

2 papers

NM_001009944.3

p.E2184*

c.6550G>T

2 papers

NM_001009944.3

p.E2184Q

c.6550G>C

2 papers

NM_001009944.3

p.E2184fs

c.6550_6551fs

1 paper

NM_001009944.3

p.T2183fs

c.6547_6548fs

3 papers

NM_001009944.3

p.T2183_E2184delFs

c.6549_6550delCA

1 paper

NM_001009944.3

p.T2183_E2184delFs

c.6548_6551del4

1 paper

NM_001009944.3

p.T2183I

c.6548C>T

1 paper

NM_001009944.3

p.Y2185D

c.6553T>G

1 paper

NM_001009944.3

p.T2183fs

c.6547_6548fs

1 paper

NM_001009944.3

p.Y2185*

c.6555C>G

1 paper

NM_001009944.3

p.Y2185*

c.6555C>A

2 papers

NM_001009944.3

p.Q2182R

c.6545A>G