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

2 papers

NM_001009944.3

p.E2457*

c.7369G>T

Surrounding Variants

2 papers

NM_001009944.3

p.E2458*

c.7372G>T

1 paper

NM_001009944.3

p.E2456*

c.7366G>T

1 paper

NM_001009944.3

p.E2458K

c.7372G>A

1 paper

NM_001009944.3

p.G2455G

c.7365C>T

1 paper

NM_001009944.3

p.G2459D

c.7376G>A

1 paper

NM_001009944.3

p.E2458del1

c.7372_7373delCTC

1 paper

NM_001009944.3

p.S2454F

c.7361C>T

1 paper

NM_001009944.3

p.A2461P

c.7381G>C

1 paper

NM_001009944.3

p.V2450_G2452delFs

c.7350_7354del5

1 paper

NM_001009944.3

p.T2449_G2452del0

c.7345_7356del12

1 paper

NM_001009944.3

p.I2463T

c.7388T>C

2 papers

NM_001009944.3

p.V2450A

c.7349T>C