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

3 papers

NM_001009944.3

p.Y3017*

c.9051C>A

Surrounding Variants

3 papers

NM_001009944.3

p.Y3017*

c.9051C>G

1 paper

NM_001009944.3

p.T3012_Y3017del0

c.9034_9051del18

2 papers

NM_001009944.3

p.F3018fs

c.9052_9053fs

2 papers

NM_001009944.3

p.Y3017D

c.9049T>G

2 papers

NM_001009944.3

p.F3018delFs

c.9053delA

1 paper

NM_001009944.3

p.S3019fs

c.9055_9056fs

14 papers

NM_001009944.3

p.Q3016R

c.9047A>G

1 paper

NM_001009944.3

p.F3018_S3019insFs

c.9052_9055dup4

2 papers

NM_001009944.3

p.Q3016*

c.9046C>T

6 papers

NM_001009944.3

p.E3020*

c.9058G>T

1 paper

NM_001009944.3

p.C3015F

c.9044G>T

1 paper

NM_001009944.3

p.C3015S

c.9044G>C