Varaico: Literature-Extracted Genetic Variants

Gene:MCL1
Variant:p.N223K

MCL1

397 papers

RefSeq Summary

This gene encodes an anti-apoptotic protein, which is a member of the Bcl-2 family. Alternative splicing results in multiple transcript variants. The longest gene product (isoform 1) enhances cell sur...

Pfam Domains

Bcl-2aa 60–159UCSCApoptosis regulator proteins, Bcl-2 family

Gene Aliases

HGNC Name

MCL1 apoptosis regulator, BCL2 family member

HGNC Alias Symbols

BCL2L3; Mcl-1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_021960.5
p.N223K
c.669C>A
Surrounding Variants
1 paper
NM_021960.5
p.N223S
c.668A>G
1 paper
NM_021960.5
p.H224delFs
c.671delT
1 paper
NM_021960.5
p.E225*
c.673G>T
2 papers
NM_021960.5
p.R222H
c.665G>A
1 paper
NM_021960.5
p.Q221L
c.662A>T
1 paper
NM_021960.5
p.T226M
c.677C>T
1 paper
NM_021960.5
p.Q221*
c.661C>T
1 paper
NM_021960.5
p.T226K
c.677C>A
1 paper
NM_021960.5
p.V220L
c.658G>T
13 papers
NM_021960.5
p.A227V
c.680C>T
2 papers
NM_021960.5
p.G219D
c.656G>A
1 paper
NM_021960.5
p.G219R
c.655G>C
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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."