Varaico: Literature-Extracted Genetic Variants

Gene:RUBCNL

RUBCNL

41 papers

RefSeq Summary

This gene encodes a cysteine-rich protein that contains a putative zinc-RING and/or ribbon domain. The encoded protein is related to Run domain Beclin-1-interacting and cysteine-rich domain-containing...

Pfam Domains

RUBC_PIKBDaa 202–411UCSCRubicon, PI3K-binding domain
RH_domaa 450–649UCSCRubicon Homology Domain

Gene Aliases

HGNC Name

rubicon like autophagy enhancer

HGNC Previous Symbols

C13orf18; KIAA0226L

Papers
RefSeq ID
Protein change
DNA change
1–12 of 52 variants
5 papers
NM_025113.5
p.G152R
c.454G>C
5 papers
NM_025113.5
p.G152R
c.454G>A
2 papers
NM_025113.5
p.A629V
c.1886C>T
1 paper
NM_025113.5
p.E17K
c.49G>A
1 paper
NM_025113.5
p.G18E
c.53G>A
1 paper
NM_025113.5
p.P30L
c.89C>T
1 paper
NM_025113.5
p.I54V
c.160A>G
1 paper
NM_025113.5
p.I54N
c.161T>A
1 paper
NM_025113.5
p.N55K
c.165C>G
1 paper
NM_025113.5
p.N55K
c.165C>A
1 paper
NM_025113.5
p.P87A
c.259C>G
1 paper
NM_025113.5
p.T103A
c.307A>G
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."