Varaico: Literature-Extracted Genetic Variants

Gene:RUBCNL
Variant:p.R521fs

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.R521fs
c.1561_1562fs
Surrounding Variants
1 paper
NM_025113.5
p.R521delFs
c.1561delT
1 paper
NM_025113.5
p.D495_S496insT
c.1483_1487ins3
1 paper
NM_025113.5
p.L493L
c.1479G>T
1 paper
NM_025113.5
p.S490F
c.1469C>T
1 paper
NM_025113.5
p.N488S
c.1463A>G
1 paper
NM_025113.5
p.C470Y
c.1409G>A
1 paper
NM_025113.5
p.S469L
c.1406C>T
1 paper
NM_025113.5
p.R448_L449del2
c.1342_1346del6
1 paper
NM_025113.5
p.R450L
c.1349G>T
1 paper
NM_025113.5
p.K444insFs
c.1332dupG
1 paper
NM_025113.5
p.S544Splc
c.1632-1G>A
1 paper
NM_025113.5
p.G554E
c.1661G>A
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