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

3 papers

NM_138295.5

p.R892Splc

c.2675+4C>T

Surrounding Variants

1 paper

NM_138295.5

p.T879A

c.2635A>G

3 papers

NM_138295.5

p.R874W

c.2620C>T

1 paper

NM_138295.5

p.S850F

c.2549C>T

1 paper

NM_138295.5

p.D835N

c.2503G>A

1 paper

NM_138295.5

p.F834Y

c.2501T>A

1 paper

NM_138295.5

p.V906I

c.2716G>A

2 papers

NM_138295.5

p.P925L

c.2774C>T

1 paper

NM_138295.5

p.A938E

c.2813C>A

1 paper

NM_138295.5

p.I944insFs

c.2830_2831insC

2 papers

NM_138295.5

p.V946Splc

c.2836+2T>G

1 paper

NM_138295.5

p.R818Splc

c.2453+3G>A

1 paper

NM_138295.5

p.D812H

c.2434G>C