Varaico: Literature-Extracted Genetic Variants

Gene:MCL1
Variant:p.A116T

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.A116T
c.346G>A
Surrounding Variants
1 paper
NM_021960.5
p.A115insFs
c.344_345insC
1 paper
NM_021960.5
p.A115A
c.345C>T
1 paper
NM_021960.5
p.A115A
c.345C>A
1 paper
NM_021960.5
p.A105_A116delins
c.315_348delinsCTCGCCGCCCGAAGAGATGGAATCCTCGGTCTCC
1 paper
NM_021960.5
p.D117Y
c.349G>T
1 paper
NM_021960.5
p.P114fs
c.340_341fs
1 paper
NM_021960.5
p.A113A
c.339C>A
1 paper
NM_021960.5
p.A113D
c.338C>A
1 paper
NM_021960.5
p.A113S
c.337G>T
1 paper
NM_021960.5
p.A113T
c.337G>A
1 paper
NM_021960.5
p.I119L
c.355A>C
1 paper
NM_021960.5
p.E110_M111del2
c.328_332del6
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