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.S1121delFs

c.3361_3362delCT

Surrounding Variants

1 paper

NM_001009944.3

p.V1122M

c.3364G>A

1 paper

NM_001009944.3

p.S1121N

c.3362G>A

1 paper

NM_001009944.3

p.S1121fs

c.3361_3362fs

1 paper

NM_001009944.3

p.V1120fs

c.3358_3359fs

1 paper

NM_001009944.3

p.S1121_V1122del2

c.3361_3365del6

1 paper

NM_001009944.3

p.V1120insFs

c.3358_3359insAG

1 paper

NM_001009944.3

p.A1124fs

c.3370_3371fs

6 papers

NM_001009944.3

p.A1124A

c.3372C>T

1 paper

NM_001009944.3

p.V1118L

c.3352G>T

6 papers

NM_001009944.3

p.S1125S

c.3375C>T

1 paper

NM_001009944.3

p.S1125_L1126insFs

c.3375_3376ins16

1 paper

NM_001009944.3

p.Q1117insFs

c.3349dupC