Varaico: Literature-Extracted Genetic Variants

Gene:MCL1
Variant:p.V56fs

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.V56fs
c.166_167fs
Surrounding Variants
1 paper
NM_021960.5
p.V56L
c.166G>T
1 paper
NM_021960.5
p.V56_I57insG
c.166_170ins3
1 paper
NM_021960.5
p.A55P
c.163G>C
1 paper
NM_021960.5
p.I57N
c.170T>A
1 paper
NM_021960.5
p.G54delFs
c.161delC
1 paper
NM_021960.5
p.I57M
c.171T>G
1 paper
NM_021960.5
p.I57I
c.171T>A
1 paper
NM_021960.5
p.G58S
c.172G>A
1 paper
NM_021960.5
p.G54S
c.160G>A
1 paper
NM_021960.5
p.G54fs
c.160_161fs
1 paper
NM_021960.5
p.A53G
c.158C>G
2 papers
NM_021960.5
p.G59R
c.175G>C
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