Varaico: Literature-Extracted Genetic Variants

PKD1L1

216 papers

RefSeq Summary

This gene encodes a member of the polycystin protein family containing 11 transmembrane domains, a receptor for egg jelly (REJ) domain, and a polycystin-1, lipoxygenase, alpha-toxin (PLAT) domain. The...

Pfam Domains

PKDaa 594–667UCSCPKD domain

REJaa 705–948UCSCREJ domain

REJaa 1118–1325UCSCREJ domain

PLATaa 1798–1913UCSCPLAT/LH2 domain

Polycystin_domaa 2441–2513UCSCPolycystin domain

PKD_channelaa 2514–2672UCSCPolycystin cation channel

Gene Aliases

HGNC Name

polycystin 1 like 1, transient receptor potential channel interacting

HGNC Alias Symbol

PRO19563

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_138295.5

p.S2473F

c.7418C>T

Surrounding Variants

1 paper

NM_138295.5

p.I2465T

c.7394T>C

1 paper

NM_138295.5

p.L2485H

c.7454T>A

1 paper

NM_138295.5

p.R2458Q

c.7373G>A

1 paper

NM_138295.5

p.E2494K

c.7480G>A

1 paper

NM_138295.5

p.E2508K

c.7522G>A

1 paper

NM_138295.5

p.D2516D

c.7548C>T

1 paper

NM_138295.5

p.A2518T

c.7552G>A

3 papers

NM_138295.5

p.Q2527*

c.7579C>T

1 paper

NM_138295.5

p.V2427M

c.7279G>A

1 paper

NM_138295.5

p.E2410K

c.7228G>A

1 paper

NM_138295.5

p.C2407Y

c.7220G>A

1 paper

NM_138295.5

p.I2400I

c.7200C>T