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.Q3005P

c.9014A>C

Surrounding Variants

1 paper

NM_001009944.3

p.Q3005*

c.9013C>T

1 paper

NM_001009944.3

p.Q3005E

c.9013C>G

1 paper

NM_001009944.3

p.L3004R

c.9011T>G

1 paper

NM_001009944.3

p.L3004fs

c.9010_9011fs

2 papers

NM_001009944.3

p.S3007P

c.9019T>C

1 paper

NM_001009944.3

p.A3003fs

c.9007_9008fs

1 paper

NM_001009944.3

p.A3003S

c.9007G>T

1 paper

NM_001009944.3

p.V3008L

c.9022G>T

1 paper

NM_001009944.3

p.S3002insFs

c.9005dupC

1 paper

NM_001009944.3

p.V3008L

c.9022G>C

4 papers

NM_001009944.3

p.V3008M

c.9022G>A

1 paper

NM_001009944.3

p.S3002insFs

c.9004dupT