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.V1431_T1432Fs

c.4292_4294delinsCFs

Surrounding Variants

1 paper

NM_001009944.3

p.V1431fs

c.4291_4292fs

1 paper

NM_001009944.3

p.V1431delFs

c.4291delC

2 papers

NM_001009944.3

p.E1430*

c.4288G>T

1 paper

NM_001009944.3

p.P1429S

c.4285C>T

21 papers

NM_001009944.3

p.R1436*

c.4306C>T

1 paper

NM_001009944.3

p.D1437N

c.4309G>A

1 paper

NM_001009944.3

p.D1437insFs

c.4309_4310dupGA

1 paper

NM_001009944.3

p.P1438S

c.4312C>T

2 papers

NM_001009944.3

p.R1425C

c.4273C>T

1 paper

NM_001009944.3

p.G1439V

c.4316G>T

1 paper

NM_001009944.3

p.T1424A

c.4270A>G

1 paper

NM_001009944.3

p.P1423delFs

c.4269delG