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.P1306insFs

c.3916dupC

Surrounding Variants

1 paper

NM_001009944.3

p.P1306R

c.3917C>G

1 paper

NM_001009944.3

p.Q1308*

c.3922C>T

2 papers

NM_001009944.3

p.I1305_Q1308delFs

c.3914_3923del10

1 paper

NM_001009944.3

p.I1305fs

c.3913_3914fs

1 paper

NM_001009944.3

p.I1305_Q1308del4

c.3913_3923del12

1 paper

NM_001009944.3

p.I1305V

c.3913A>G

1 paper

NM_001009944.3

p.P1309H

c.3926C>A

2 papers

NM_001009944.3

p.D1310fs

c.3928_3929fs

1 paper

NM_001009944.3

p.D1310fs

c.3928_3929fs

1 paper

NM_001009944.3

p.A1302insFs

c.3906dupC

5 papers

NM_001009944.3

p.A1311T

c.3931G>A

2 papers

NM_001009944.3

p.D1310delFs

c.3929_3930delGT