Varaico: Literature-Extracted Genetic Variants

Gene:MCL1
Variant:p.V249G

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.V249G
c.746T>G
Surrounding Variants
1 paper
NM_021960.5
p.V249E
c.746T>A
2 papers
NM_021960.5
p.V249V
c.747G>T
1 paper
NM_021960.5
p.V249L
c.745G>T
1 paper
NM_021960.5
p.R248fs
c.742_743fs
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.R248G
c.742C>G
1 paper
NM_021960.5
p.I251F
c.751A>T
1 paper
NM_021960.5
p.I251V
c.751A>G
1 paper
NM_021960.5
p.I251L
c.751A>C
1 paper
NM_021960.5
p.I251S
c.752T>G
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