Varaico: Literature-Extracted Genetic Variants

Gene:MCL1
Variant:p.G219R

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.G219R
c.655G>C
Surrounding Variants
2 papers
NM_021960.5
p.G219D
c.656G>A
1 paper
NM_021960.5
p.V220L
c.658G>T
1 paper
NM_021960.5
p.D218Y
c.652G>T
1 paper
NM_021960.5
p.G217E
c.650G>A
1 paper
NM_021960.5
p.Q221*
c.661C>T
1 paper
NM_021960.5
p.Q221L
c.662A>T
1 paper
NM_021960.5
p.V216fs
c.646_647fs
1 paper
NM_021960.5
p.V216_G217insC
c.646_650ins3
1 paper
NM_021960.5
p.V216L
c.646G>C
2 papers
NM_021960.5
p.V216I
c.646G>A
2 papers
NM_021960.5
p.R222H
c.665G>A
1 paper
NM_021960.5
p.R215G
c.643C>G
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