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.G2837G

c.8511C>T

Surrounding Variants

1 paper

NM_001009944.3

p.V2829_G2837del9

c.8485_8510del27

1 paper

NM_001009944.3

p.G2837C

c.8509G>T

1 paper

NM_001009944.3

p.P2833_F2834del2

c.8497_8501del6

1 paper

NM_001009944.3

p.I2839fs

c.8515_8516fs

1 paper

NM_001009944.3

p.I2839F

c.8515A>T

1 paper

NM_001009944.3

p.I2839insFs

c.8515_8516insG

3 papers

NM_001009944.3

p.P2835L

c.8504C>T

4 papers

NM_001009944.3

p.F2834F

c.8502T>C

1 paper

NM_001009944.3

p.F2834S

c.8501T>C

2 papers

NM_001009944.3

p.N2841S

c.8522A>G

4 papers

NM_001009944.3

p.P2833R

c.8498C>G

4 papers

NM_001009944.3

p.P2833S

c.8497C>T