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.Q2609_R2610Splc

c.7827+6C>T

Surrounding Variants

1 paper

NM_138295.5

p.T2602A

c.7804A>G

1 paper

NM_138295.5

p.R2596L

c.7787G>T

1 paper

NM_138295.5

p.S2576S

c.7728C>T

1 paper

NM_138295.5

p.S2576Y

c.7727C>A

1 paper

NM_138295.5

p.R2555*

c.7663C>T

1 paper

NM_138295.5

p.V2550I

c.7648G>A

1 paper

NM_138295.5

p.M2545I

c.7635G>T

1 paper

NM_138295.5

p.M2545I

c.7635G>C

1 paper

NM_138295.5

p.M2545I

c.7635G>A

1 paper

NM_138295.5

p.H2537R

c.7610A>G

3 papers

NM_138295.5

p.Q2527*

c.7579C>T

1 paper

NM_138295.5

p.A2518T

c.7552G>A