Varaico: Literature-Extracted Genetic Variants

Gene:RUBCNL
Variant:p.A626V

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
Selected Variant
1 paper
NM_025113.5
p.A626V
c.1877C>T
Surrounding Variants
2 papers
NM_025113.5
p.A629V
c.1886C>T
1 paper
NM_025113.5
p.S639F
c.1916C>T
1 paper
NM_025113.5
p.L653R
c.1958T>G
1 paper
NM_025113.5
p.C621Y
c.1862G>A
1 paper
NM_025113.5
p.T610M
c.1829C>T
1 paper
NM_025113.5
p.F602V
c.1804T>G
1 paper
NM_025113.5
p.S564F
c.1691C>T
1 paper
NM_025113.5
p.E559Q
c.1675G>C
1 paper
NM_025113.5
p.G554E
c.1661G>A
1 paper
NM_025113.5
p.S544Splc
c.1632-1G>A
1 paper
NM_025113.5
p.R521fs
c.1561_1562fs
1 paper
NM_025113.5
p.R521delFs
c.1561delT
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