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

2 papers

NM_138295.5

p.K1272E

c.3814A>G

Surrounding Variants

1 paper

NM_138295.5

p.G1271_K1272delins

c.3813_3814delinsTG

3 papers

NM_138295.5

p.P1278L

c.3833C>T

3 papers

NM_138295.5

p.P1278Q

c.3833C>A

3 papers

NM_138295.5

p.V1282E

c.3845T>A

2 papers

NM_138295.5

p.R1288C

c.3862C>T

1 paper

NM_138295.5

p.V1262Splc

c.3785-158T>G

1 paper

NM_138295.5

p.V1262Splc

c.3784+1G>A

1 paper

NM_138295.5

p.P1221L

c.3662C>T

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.T1210T

c.3630C>A