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

2 papers

NM_001009944.3

p.V2905V

c.8715C>T

Surrounding Variants

4 papers

NM_001009944.3

p.G2906S

c.8716G>A

2 papers

NM_001009944.3

p.V2905I

c.8713G>A

1 paper

NM_001009944.3

p.Q2902*

c.8704C>T

1 paper

NM_001009944.3

p.P2901L

c.8702C>T

1 paper

NM_001009944.3

p.L2911delFs

c.8731delG

8 papers

NM_001009944.3

p.Q2900*

c.8698C>T

1 paper

NM_001009944.3

p.L2911fs

c.8731_8732fs

1 paper

NM_001009944.3

p.A2894_V2897del4

c.8680_8690del12

1 paper

NM_001009944.3

p.V2897A

c.8690T>C

4 papers

NM_001009944.3

p.A2894_V2897del0

c.8681_8689del9

1 paper

NM_001009944.3

p.V2897ins3

c.8689_8690ins9

1 paper

NM_001009944.3

p.V2897insFs

c.8689_8690insC