Varaico: Literature-Extracted Genetic Variants

Gene:MCL1
Variant:p.S247C

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.S247C
c.740C>G
Surrounding Variants
3 papers
NM_182763.3
p.G230Splc
c.688+403C>T
NM_021960.5
p.S247F
c.740C>T
NM_001197320.2
p.S94F
c.281C>T
1 paper
NM_021960.5
p.S247A
c.739T>G
1 paper
NM_021960.5
p.R248G
c.742C>G
2 papers
NM_021960.5
p.R248L
c.743G>T
7 papers
NM_021960.5
p.R248Q
c.743G>A
1 paper
NM_021960.5
p.S247_R248delFs
c.741_742delGA
1 paper
NM_021960.5
p.R248fs
c.742_743fs
1 paper
NM_021960.5
p.V249L
c.745G>T
1 paper
NM_021960.5
p.V249G
c.746T>G
1 paper
NM_021960.5
p.V249E
c.746T>A
1 paper
NM_021960.5
p.S245L
c.734C>T
2 papers
NM_021960.5
p.V249V
c.747G>T
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