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.L336insFs

c.1006_1007insTA

Surrounding Variants

1 paper

NM_138295.5

p.L336insFs

c.1006_1007dupCT

1 paper

NM_138295.5

p.H337Q

c.1011C>G

1 paper

NM_138295.5

p.H337Q

c.1011C>A

1 paper

NM_138295.5

p.N338_M339del1

c.1013_1015delTGT

1 paper

NM_138295.5

p.N338_M339del2

c.1012_1016del6

1 paper

NM_138295.5

p.E341*

c.1021G>T

1 paper

NM_138295.5

p.E341K

c.1021G>A

1 paper

NM_138295.5

p.S330F

c.989C>T

1 paper

NM_138295.5

p.S330Y

c.989C>A

1 paper

NM_138295.5

p.A344V

c.1031C>T

1 paper

NM_138295.5

p.A347T

c.1039G>A

1 paper

NM_138295.5

p.L322_M323insFs

c.966_967insC