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.Y2282*

c.6846C>A

Surrounding Variants

2 papers

NM_001009944.3

p.Y2282*

c.6846C>G

2 papers

NM_001009944.3

p.D2283N

c.6847G>A

2 papers

NM_001009944.3

p.Y2282C

c.6845A>G

4 papers

NM_001009944.3

p.S2281F

c.6842C>T

1 paper

NM_001009944.3

p.S2281Y

c.6842C>A

1 paper

NM_001009944.3

p.N2285_L2286del2

c.6853_6857del6

3 papers

NM_001009944.3

p.G2278R

c.6832G>C

3 papers

NM_001009944.3

p.G2278R

c.6832G>A

1 paper

NM_001009944.3

p.D2277delFs

c.6831delA

1 paper

NM_001009944.3

p.D2277insFs

c.6830_6831insA

3 papers

NM_001009944.3

p.L2276P

c.6827T>C

1 paper

NM_001009944.3

p.G2289S

c.6865G>A