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.R1535C

c.4603C>T

Surrounding Variants

6 papers

NM_001009944.3

p.E1537*

c.4609G>T

1 paper

NM_001009944.3

p.E1537K

c.4609G>A

1 paper

NM_001009944.3

p.E1537delFs

c.4609delC

2 papers

NM_001009944.3

p.N1531K

c.4593T>G

2 papers

NM_001009944.3

p.N1531K

c.4593T>A

1 paper

NM_001009944.3

p.A1538G

c.4613C>G

1 paper

NM_001009944.3

p.N1531S

c.4592A>G

1 paper

NM_001009944.3

p.W1539insFs

c.4616_4617insA

2 papers

NM_001009944.3

p.W1539*

c.4616G>A

2 papers

NM_001009944.3

p.W1539*

c.4617G>A

1 paper

NM_001009944.3

p.S1536_W1539del4

c.4606_4616del12

1 paper

NM_001009944.3

p.L1540P

c.4619T>C