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.E2772del1

c.8314_8315delCTC

Surrounding Variants

1 paper

NM_001009944.3

p.P2773L

c.8318C>T

1 paper

NM_001009944.3

p.L2774fs

c.8320_8321fs

1 paper

NM_001009944.3

p.L2774V

c.8320C>G

1 paper

NM_001009944.3

p.L2774delFs

c.8320delG

1 paper

NM_001009944.3

p.L2774delFs

c.8320_8321delAG

2 papers

NM_001009944.3

p.E2771V

c.8312A>T

63 papers

NM_001009944.3

p.E2771K

c.8311G>A

1 paper

NM_001009944.3

p.N2770_E2771Fs

c.8308_8311delinsCTCGTTFs

1 paper

NM_001009944.3

p.N2770del1

c.8308_8309delGTT

1 paper

NM_001009944.3

p.N2770fs

c.8308_8309fs

1 paper

NM_001009944.3

p.T2775T

c.8325G>A

3 papers

NM_001009944.3

p.N2770I

c.8309A>T