Varaico: Literature-Extracted Genetic Variants

Gene:MCL1
Variant:p.N152I

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.N152I
c.455A>T
Surrounding Variants
1 paper
NM_021960.5
p.N152S
c.455A>G
1 paper
NM_021960.5
p.T154A
c.460A>G
2 papers
NM_021960.5
p.T154I
c.461C>T
1 paper
NM_021960.5
p.S150F
c.449C>T
1 paper
NM_021960.5
p.E149delFs
c.447delT
1 paper
NM_021960.5
p.S155G
c.463A>G
1 paper
NM_021960.5
p.E149E
c.447A>G
1 paper
NM_021960.5
p.E149G
c.446A>G
1 paper
NM_021960.5
p.E149*
c.445G>T
1 paper
NM_021960.5
p.E149K
c.445G>A
1 paper
NM_021960.5
p.G148G
c.444G>C
2 papers
NM_021960.5
p.G148E
c.443G>A
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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."