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.L2144V

c.6430C>G

Surrounding Variants

2 papers

NM_001009944.3

p.Q2142delFs

c.6424delG

2 papers

NM_001009944.3

p.Q2142fs

c.6424_6425fs

10 papers

NM_001009944.3

p.Q2142*

c.6424C>T

1 paper

NM_001009944.3

p.V2141F

c.6421G>T

2 papers

NM_001009944.3

p.R2147W

c.6439C>T

1 paper

NM_001009944.3

p.V2141fs

c.6421_6422fs

1 paper

NM_001009944.3

p.V2141_R2147delFs

c.6422_6441del20

1 paper

NM_001009944.3

p.E2148delFs

c.6442delC

1 paper

NM_001009944.3

p.E2148fs

c.6442_6443fs

1 paper

NM_001009944.3

p.P2149T

c.6445C>A

1 paper

NM_001009944.3

p.T2138S

c.6412A>T

1 paper

NM_001009944.3

p.Q2136R

c.6407A>G