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.P2005S

c.6013C>T

Surrounding Variants

1 paper

NM_138295.5

p.R1994delFs

c.5980delT

1 paper

NM_138295.5

p.R1994fs

c.5980_5981fs

2 papers

NM_138295.5

p.P1982P

c.5946C>T

2 papers

NM_138295.5

p.P2021L

c.6062C>T

1 paper

NM_138295.5

p.S2023A

c.6067T>G

1 paper

NM_138295.5

p.G2043A

c.6128G>C

1 paper

NM_138295.5

p.P2051S

c.6151C>T

1 paper

NM_138295.5

p.R2057H

c.6170G>A

1 paper

NM_138295.5

p.G1977E

c.5930G>A

1 paper

NM_138295.5

p.G1977R

c.5929G>C

1 paper

NM_138295.5

p.G1977R

c.5929G>A

1 paper

NM_138295.5

p.L1964Q

c.5891T>A