Varaico: Literature-Extracted Genetic Variants

Gene:MCL1
Variant:p.I48delFs

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.I48delFs
c.142delT
Surrounding Variants
2 papers
NM_021960.5
p.I48L
c.142A>T
1 paper
NM_021960.5
p.I48L
c.142A>C
1 paper
NM_021960.5
p.G49R
c.145G>A
1 paper
NM_021960.5
p.G49V
c.146G>T
1 paper
NM_021960.5
p.G49E
c.146G>A
1 paper
NM_021960.5
p.E47*
c.139G>T
1 paper
NM_021960.5
p.G50R
c.148G>C
1 paper
NM_021960.5
p.G50R
c.148G>A
1 paper
NM_021960.5
p.G50E
c.149G>A
1 paper
NM_021960.5
p.R46Q
c.137G>A
1 paper
NM_021960.5
p.R46*
c.136C>T
1 paper
NM_021960.5
p.G50G
c.150A>C
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