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.R2317W

c.6949C>T

Surrounding Variants

1 paper

NM_138295.5

p.R2317Q

c.6950G>A

1 paper

NM_138295.5

p.K2318E

c.6952A>G

1 paper

NM_138295.5

p.A2315delFs

c.6945delA

1 paper

NM_138295.5

p.T2321S

c.6961A>T

1 paper

NM_138295.5

p.V2300I

c.6898G>A

1 paper

NM_138295.5

p.G2330D

c.6989G>A

1 paper

NM_138295.5

p.T2343P

c.7027A>C

1 paper

NM_138295.5

p.L2345F

c.7033C>T

1 paper

NM_138295.5

p.L2284R

c.6851T>G

1 paper

NM_138295.5

p.L2267R

c.6800T>G

1 paper

NM_138295.5

p.R2250*

c.6748C>T

2 papers

NM_138295.5

p.I2374T

c.7121T>C