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.M1722fs

c.5164_5165fs

Surrounding Variants

2 papers

NM_001009944.3

p.V1718_L1721insFs

c.5154_5163dup10

1 paper

NM_001009944.3

p.W1720delFs

c.5159delC

1 paper

NM_001009944.3

p.V1723E

c.5168T>A

1 paper

NM_001009944.3

p.W1720fs

c.5158_5159fs

2 papers

NM_001009944.3

p.W1720*

c.5160G>A

2 papers

NM_001009944.3

p.W1720*

c.5159G>A

1 paper

NM_001009944.3

p.G1719delFs

c.5157delC

9 papers

NM_001009944.3

p.A1724A

c.5172C>T

1 paper

NM_001009944.3

p.A1725A

c.5175C>A

1 paper

NM_001009944.3

p.P1717L

c.5150C>T

1 paper

NM_001009944.3

p.S1726S

c.5178C>A

1 paper

NM_001009944.3

p.P1727fs

c.5179_5180fs