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.S1134_D1135delFs

c.3401_3404del4

Surrounding Variants

1 paper

NM_001009944.3

p.D1135D

c.3405C>T

1 paper

NM_001009944.3

p.S1134R

c.3402T>G

1 paper

NM_001009944.3

p.S1134R

c.3402T>A

1 paper

NM_001009944.3

p.G1136_V1137delFs

c.3408_3409delCG

1 paper

NM_001009944.3

p.S1134fs

c.3400_3401fs

1 paper

NM_001009944.3

p.S1134R

c.3400A>C

4 papers

NM_001009944.3

p.V1133delFs

c.3398_3399delCA

1 paper

NM_001009944.3

p.V1131_V1133del3

c.3391_3398del9

2 papers

NM_001009944.3

p.V1133fs

c.3397_3398fs

1 paper

NM_001009944.3

p.V1139E

c.3416T>A

1 paper

NM_001009944.3

p.A1140V

c.3419C>T

1 paper

NM_001009944.3

p.A1140insFs

c.3419dupC