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.R818Splc

c.2453+3G>A

Surrounding Variants

1 paper

NM_138295.5

p.D812H

c.2434G>C

1 paper

NM_138295.5

p.D811D

c.2433C>T

3 papers

NM_138295.5

p.I800T

c.2399T>C

1 paper

NM_138295.5

p.P780T

c.2338C>A

1 paper

NM_138295.5

p.Q778delFs

c.2332delG

1 paper

NM_138295.5

p.Q778fs

c.2332_2333fs

1 paper

NM_138295.5

p.Y766C

c.2297A>G

1 paper

NM_138295.5

p.Q759H

c.2277G>T

1 paper

NM_138295.5

p.Q759H

c.2277G>C

1 paper

NM_138295.5

p.Q759L

c.2276A>T

1 paper

NM_138295.5

p.F834Y

c.2501T>A

1 paper

NM_138295.5

p.D835N

c.2503G>A