Varaico: Literature-Extracted Genetic Variants

Gene:MCL1
Variant:p.E170V

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.E170V
c.509A>T
Surrounding Variants
1 paper
NM_021960.5
p.E170K
c.508G>A
1 paper
NM_021960.5
p.E171*
c.511G>T
1 paper
NM_021960.5
p.E171Q
c.511G>C
1 paper
NM_021960.5
p.E170_E171delins
c.510_511delinsTT
1 paper
NM_021960.5
p.E169V
c.506A>T
3 papers
NM_021960.5
p.E171D
c.513G>T
3 papers
NM_021960.5
p.E171D
c.513G>C
1 paper
NM_021960.5
p.E169K
c.505G>A
1 paper
NM_021960.5
p.D172Y
c.514G>T
1 paper
NM_021960.5
p.E168D
c.504G>T
1 paper
NM_021960.5
p.E168D
c.504G>C
1 paper
NM_021960.5
p.D172N
c.514G>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."