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

4 papers

NM_138295.5

p.R284*

c.850C>T

Surrounding Variants

1 paper

NM_138295.5

p.R284Q

c.851G>A

1 paper

NM_138295.5

p.N288fs

c.862_863fs

1 paper

NM_138295.5

p.N288T

c.863A>C

1 paper

NM_138295.5

p.N288delFs

c.863delT

1 paper

NM_138295.5

p.V293V

c.879T>A

1 paper

NM_138295.5

p.R303Q

c.908G>A

1 paper

NM_138295.5

p.P306L

c.917C>T

1 paper

NM_138295.5

p.G309*

c.925G>T

1 paper

NM_138295.5

p.G309R

c.925G>C

1 paper

NM_138295.5

p.G309R

c.925G>A

1 paper

NM_138295.5

p.R311C

c.931C>T

7 papers

NM_138295.5

p.V312F

c.934G>T