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.V946Splc

c.2836+2T>G

Surrounding Variants

1 paper

NM_138295.5

p.I944insFs

c.2830_2831insC

1 paper

NM_138295.5

p.A938E

c.2813C>A

2 papers

NM_138295.5

p.P925L

c.2774C>T

1 paper

NM_138295.5

p.V906I

c.2716G>A

1 paper

NM_138295.5

p.V946Splc

c.2837-2A>G

1 paper

NM_138295.5

p.F948V

c.2842T>G

1 paper

NM_138295.5

p.C949R

c.2845T>C

1 paper

NM_138295.5

p.G953R

c.2857G>C

1 paper

NM_138295.5

p.G953R

c.2857G>A

1 paper

NM_138295.5

p.S957L

c.2870C>T

1 paper

NM_138295.5

p.S957S

c.2871G>A

1 paper

NM_138295.5

p.G959G

c.2877A>G