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.S2708F

c.8123C>T

Surrounding Variants

1 paper

NM_138295.5

p.A2685T

c.8053G>A

4 papers

NM_138295.5

p.R2669*

c.8005C>T

1 paper

NM_138295.5

p.H2668D

c.8002C>G

1 paper

NM_138295.5

p.L2664V

c.7990C>G

4 papers

NM_138295.5

p.S2646*

c.7937C>G

4 papers

NM_138295.5

p.S2646*

c.7937C>A

1 paper

NM_138295.5

p.L2629H

c.7886T>A

1 paper

NM_138295.5

p.Q2609_R2610Splc

c.7828-3C>T

3 papers

NM_138295.5

p.D2756N

c.8266G>A

1 paper

NM_138295.5

p.E2780K

c.8338G>A

1 paper

NM_138295.5

p.Q2609_R2610Splc

c.7827+6C>T

1 paper

NM_138295.5

p.T2602A

c.7804A>G