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.T3012A

c.9034A>G

Surrounding Variants

1 paper

NM_001009944.3

p.T3012P

c.9034A>C

2 papers

NM_001009944.3

p.T3012M

c.9035C>T

1 paper

NM_001009944.3

p.Y3011*

c.9033C>G

1 paper

NM_001009944.3

p.Y3011*

c.9033C>A

1 paper

NM_001009944.3

p.T3012_S3013delFs

c.9036_9037delAC

1 paper

NM_001009944.3

p.L3010Q

c.9029T>A

1 paper

NM_001009944.3

p.L3014fs

c.9040_9041fs

1 paper

NM_001009944.3

p.L3014L

c.9040C>T

1 paper

NM_001009944.3

p.T3012_S3013del0

c.9034_9039del6

1 paper

NM_001009944.3

p.C3015R

c.9043T>C

1 paper

NM_001009944.3

p.C3015S

c.9043T>A

1 paper

NM_001009944.3

p.G3009S

c.9025G>A