Varaico: Literature-Extracted Genetic Variants

Gene:MCL1
Variant:p.E85D

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.E85D
c.255G>C
Surrounding Variants
2 papers
NM_021960.5
p.V86L
c.256G>C
1 paper
NM_021960.5
p.V86I
c.256G>A
1 paper
NM_021960.5
p.G83_E85delFs
c.247_253del7
1 paper
NM_021960.5
p.E85*
c.253G>T
1 paper
NM_021960.5
p.E85K
c.253G>A
1 paper
NM_021960.5
p.V86insFs
c.257_258insTA
1 paper
NM_021960.5
p.A84fs
c.250_251fs
1 paper
NM_021960.5
p.A84D
c.251C>A
1 paper
NM_021960.5
p.A84S
c.250G>T
1 paper
NM_021960.5
p.A84T
c.250G>A
1 paper
NM_021960.5
p.P87fs
c.259_260fs
1 paper
NM_021960.5
p.D88H
c.262G>C
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