Varaico: Literature-Extracted Genetic Variants

Gene:MCL1
Variant:p.K302fs

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.K302fs
c.904_905fs
Surrounding Variants
1 paper
NM_021960.5
p.K302delFs
c.906delT
1 paper
NM_021960.5
p.R303P
c.908G>C
1 paper
NM_021960.5
p.D304N
c.910G>A
1 paper
NM_021960.5
p.T301K
c.902C>A
1 paper
NM_021960.5
p.D304V
c.911A>T
1 paper
NM_021960.5
p.T301A
c.901A>G
1 paper
NM_021960.5
p.R300T
c.899G>C
1 paper
NM_021960.5
p.R300K
c.899G>A
1 paper
NM_021960.5
p.W305L
c.914G>T
1 paper
NM_021960.5
p.L306L
c.916C>T
4 papers
NM_021960.5
p.V299L
c.895G>T
3 papers
NM_021960.5
p.V299L
c.895G>C
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."