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.W1760*

c.5279G>A

Surrounding Variants

2 papers

NM_001009944.3

p.W1760*

c.5280G>A

1 paper

NM_001009944.3

p.T1762T

c.5286C>G

1 paper

NM_001009944.3

p.S1763P

c.5287T>C

1 paper

NM_001009944.3

p.E1756E

c.5268G>A

1 paper

NM_001009944.3

p.E1755_E1756insT

c.5263_5267ins3

1 paper

NM_001009944.3

p.T1767P

c.5299A>C

3 papers

NM_001009944.3

p.W1752*

c.5256G>A

3 papers

NM_001009944.3

p.S1746_W1752del0

c.5238_5255del18

1 paper

NM_001009944.3

p.T1768S

c.5302A>T

4 papers

NM_001009944.3

p.W1752*

c.5255G>A

1 paper

NM_001009944.3

p.T1768S

c.5303C>G

1 paper

NM_001009944.3

p.T1768N

c.5303C>A