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.G2474fs

c.7420_7421fs

Surrounding Variants

4 papers

NM_001009944.3

p.G2474insFs

c.7421dupG

2 papers

NM_001009944.3

p.G2474delFs

c.7421delC

1 paper

NM_001009944.3

p.G2474delFs

c.7422delG

5 papers

NM_001009944.3

p.S2475fs

c.7423_7424fs

3 papers

NM_001009944.3

p.L2472insFs

c.7415dupT

1 paper

NM_001009944.3

p.L2472_G2473insFs

c.7416_7417insC

1 paper

NM_001009944.3

p.S2475fs

c.7423_7424fs

1 paper

NM_001009944.3

p.L2472insFs

c.7415_7416insA

1 paper

NM_001009944.3

p.P2470_L2472delFs

c.7408_7414del7

1 paper

NM_001009944.3

p.C2476F

c.7427G>T

3 papers

NM_001009944.3

p.P2471L

c.7412C>T

2 papers

NM_001009944.3

p.C2476W

c.7428C>G