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.T1145T

c.3435C>G

Surrounding Variants

2 papers

NM_001009944.3

p.V1144fs

c.3430_3431fs

1 paper

NM_001009944.3

p.F1146delFs

c.3438delG

1 paper

NM_001009944.3

p.Y1147fs

c.3439_3440fs

1 paper

NM_001009944.3

p.V1144I

c.3430G>A

2 papers

NM_001009944.3

p.V1144fs

c.3430_3431fs

3 papers

NM_001009944.3

p.F1146del1

c.3436_3437delGAA

2 papers

NM_001009944.3

p.R1142_P1143insFs

c.3425_3428dup4

2 papers

NM_001009944.3

p.R1142_P1143delFs

c.3425_3428del4

1 paper

NM_001009944.3

p.R1142delFs

c.3426delC

1 paper

NM_001009944.3

p.G1141_R1142del2

c.3421_3425del6

2 papers

NM_001009944.3

p.P1148P

c.3444G>A

1 paper

NM_001009944.3

p.A1140_R1142delFs

c.3418_3424del7