Varaico: Literature-Extracted Genetic Variants

Gene:MCL1
Variant:p.V258E

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.V258E
c.773T>A
Surrounding Variants
1 paper
NM_021960.5
p.V258I
c.772G>A
1 paper
NM_021960.5
p.G257D
c.770G>A
1 paper
NM_021960.5
p.G257_V258insTA
c.769_773ins6
1 paper
NM_021960.5
p.G257R
c.769G>C
1 paper
NM_021960.5
p.N260S
c.779A>G
2 papers
NM_021960.5
p.N260K
c.780C>A
1 paper
NM_021960.5
p.S255I
c.764G>T
1 paper
NM_021960.5
p.G262C
c.784G>T
1 paper
NM_021960.5
p.F254L
c.762C>G
1 paper
NM_021960.5
p.F254L
c.762C>A
1 paper
NM_021960.5
p.S247_V253del7
c.739_758del21
2 papers
NM_021960.5
p.G262V
c.785G>T
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