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

1–12 of 303 variants

7 papers

NM_138295.5

p.V312F

c.934G>T

4 papers

NM_138295.5

p.R284*

c.850C>T

4 papers

NM_138295.5

p.R1053P

c.3158G>C

4 papers

NM_138295.5

p.Q1201*

c.3601C>T

4 papers

NM_138295.5

p.R2317W

c.6949C>T

4 papers

NM_138295.5

p.S2646*

c.7937C>G

4 papers

NM_138295.5

p.S2646*

c.7937C>A

4 papers

NM_138295.5

p.R2669*

c.8005C>T

3 papers

NM_138295.5

p.I800T

c.2399T>C

3 papers

NM_138295.5

p.R874W

c.2620C>T

3 papers

NM_138295.5

p.R892Splc

c.2675+4C>T

3 papers

NM_138295.5

p.F988L

c.2962T>C