Varaico: Literature-Extracted Genetic Variants

Gene:MCL1
Variant:p.A42D

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.A42D
c.125C>A
Surrounding Variants
1 paper
NM_021960.5
p.A42V
c.125C>T
1 paper
NM_021960.5
p.A42insFs
c.125_126ins4
1 paper
NM_021960.5
p.A42S
c.124G>T
1 paper
NM_021960.5
p.A42T
c.124G>A
1 paper
NM_021960.5
p.A42_S43delins
c.126_127delinsAA
1 paper
NM_021960.5
p.E41D
c.123G>T
1 paper
NM_021960.5
p.E41D
c.123G>C
1 paper
NM_021960.5
p.S43L
c.128C>T
1 paper
NM_021960.5
p.S43*
c.128C>A
1 paper
NM_021960.5
p.E41G
c.122A>G
1 paper
NM_021960.5
p.E41A
c.122A>C
1 paper
NM_021960.5
p.E41*
c.121G>T
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