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

7 papers

NM_001009944.3

p.G2814R

c.8440G>C

Surrounding Variants

8 papers

NM_001009944.3

p.G2814R

c.8440G>A

1 paper

NM_001009944.3

p.G2814A

c.8441G>C

3 papers

NM_001009944.3

p.S2813S

c.8439C>T

4 papers

NM_001009944.3

p.A2815V

c.8444C>T

1 paper

NM_001009944.3

p.P2800_F2812del0

c.8400_8435del36

1 paper

NM_001009944.3

p.E2810_A2811delFs

c.8429_8433del5

1 paper

NM_001009944.3

p.E2810_A2811del2

c.8428_8432del6

10 papers

NM_001009944.3

p.L2816P

c.8447T>C

1 paper

NM_001009944.3

p.L2816Q

c.8447T>A

1 paper

NM_001009944.3

p.P2809_E2810del2

c.8425_8429del6

1 paper

NM_001009944.3

p.A2817A

c.8451C>T

1 paper

NM_001009944.3

p.C2804_A2817insFs

c.8410_8450dup41