Varaico: Literature-Extracted Genetic Variants

Gene:MCL1
Variant:p.V243L

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.V243L
c.727G>T
Surrounding Variants
1 paper
NM_021960.5
p.V243V
c.729G>A
1 paper
NM_021960.5
p.D242V
c.725A>T
2 papers
NM_021960.5
p.D242Y
c.724G>T
2 papers
NM_021960.5
p.D242N
c.724G>A
1 paper
NM_021960.5
p.K244R
c.731A>G
2 papers
NM_021960.5
p.K244K
c.732A>G
1 paper
NM_021960.5
p.D241H
c.721G>C
1 paper
NM_021960.5
p.D241N
c.721G>A
1 paper
NM_021960.5
p.E240_D241delins
c.720_721delinsGA
1 paper
NM_021960.5
p.S245L
c.734C>T
1 paper
NM_021960.5
p.E240*
c.718G>T
1 paper
NM_021960.5
p.E240Q
c.718G>C
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