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

1 paper

NM_138295.5

p.L2267R

c.6800T>G

Surrounding Variants

1 paper

NM_138295.5

p.L2284R

c.6851T>G

1 paper

NM_138295.5

p.R2250*

c.6748C>T

1 paper

NM_138295.5

p.A2212D

c.6635C>A

1 paper

NM_138295.5

p.W2196*

c.6588G>A

1 paper

NM_138295.5

p.W2196*

c.6587G>A

1 paper

NM_138295.5

p.Q2183H

c.6549G>T

1 paper

NM_138295.5

p.Q2183H

c.6549G>C

1 paper

NM_138295.5

p.G2160G

c.6480C>T

1 paper

NM_138295.5

p.W2132*

c.6396G>A

1 paper

NM_138295.5

p.W2132*

c.6395G>A

1 paper

NM_138295.5

p.A2128D

c.6383C>A

1 paper

NM_138295.5

p.T2111I

c.6332C>T