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.L1126insFs

c.3376dupC

Surrounding Variants

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.P1127L

c.3380C>T

1 paper

NM_001009944.3

p.R1123_L1126del4

c.3367_3377del12

1 paper

NM_001009944.3

p.P1127P

c.3381C>A

1 paper

NM_001009944.3

p.A1124_P1127delFs

c.3371_3381del11

6 papers

NM_001009944.3

p.A1124A

c.3372C>T

1 paper

NM_001009944.3

p.L1126_S1128Fs

c.3378_3384delinsCCGACTTCTTCGGAGCAFs

1 paper

NM_001009944.3

p.A1124fs

c.3370_3371fs

1 paper

NM_001009944.3

p.S1121_V1122del2

c.3361_3365del6

1 paper

NM_001009944.3

p.V1122M

c.3364G>A

1 paper

NM_001009944.3

p.S1121delFs

c.3361_3362delCT