Varaico: Literature-Extracted Genetic Variants

Gene:MCL1
Variant:p.E125K

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.E125K
c.373G>A
Surrounding Variants
1 paper
NM_021960.5
p.E125_L126ins4
c.373_377ins12
1 paper
NM_021960.5
p.E125Q
c.373G>C
1 paper
NM_021960.5
p.E125A
c.374A>C
1 paper
NM_021960.5
p.E124G
c.371A>G
1 paper
NM_021960.5
p.E124Q
c.370G>C
2 papers
NM_021960.5
p.D127N
c.379G>A
1 paper
NM_021960.5
p.D127fs
c.379_380fs
1 paper
NM_021960.5
p.D127delFs
c.379delC
1 paper
NM_021960.5
p.S121S
c.363G>C
1 paper
NM_021960.5
p.G128G
c.384G>A
1 paper
NM_021960.5
p.S121L
c.362C>T
2 papers
NM_021960.5
p.S121A
c.361T>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."