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.L2776_A2777delFs

c.8327_8330del4

Surrounding Variants

1 paper

NM_001009944.3

p.L2776_A2777insFs

c.8326_8330dup5

1 paper

NM_001009944.3

p.E2771_A2777insFs

c.8312_8331dup20

1 paper

NM_001009944.3

p.G2778fs

c.8332_8333fs

2 papers

NM_001009944.3

p.G2778G

c.8334C>T

2 papers

NM_001009944.3

p.G2778insFs

c.8333dupG

3 papers

NM_001009944.3

p.L2776P

c.8327T>C

1 paper

NM_001009944.3

p.P2773_L2776del0

c.8318_8326del9

1 paper

NM_001009944.3

p.L2776_G2778insFs

c.8327_8334dup8

2 papers

NM_001009944.3

p.E2779K

c.8335G>A

2 papers

NM_001009944.3

p.E2779fs

c.8335_8336fs

1 paper

NM_001009944.3

p.E2779fs

c.8335_8336fs

1 paper

NM_001009944.3

p.T2775T

c.8325G>A