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.Q1201*

c.3601C>T

Surrounding Variants

1 paper

NM_138295.5

p.A1197D

c.3590C>A

1 paper

NM_138295.5

p.G1205D

c.3614G>A

1 paper

NM_138295.5

p.R1194W

c.3580C>T

1 paper

NM_138295.5

p.T1210T

c.3630C>A

1 paper

NM_138295.5

p.M1217I

c.3651G>T

1 paper

NM_138295.5

p.M1217I

c.3651G>C

1 paper

NM_138295.5

p.M1217I

c.3651G>A

1 paper

NM_138295.5

p.P1221L

c.3662C>T

1 paper

NM_138295.5

p.V1262Splc

c.3784+1G>A

1 paper

NM_138295.5

p.Y1159H

c.3475T>C

1 paper

NM_138295.5

p.V1262Splc

c.3785-158T>G

2 papers

NM_138295.5

p.K1272E

c.3814A>G