Varaico: Literature-Extracted Genetic Variants

Gene:MCL1

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
1–12 of 699 variants
13 papers
NM_021960.5
p.A227V
c.680C>T
10 papers
NM_021960.5
p.T163A
c.487A>G
9 papers
NM_021960.5
p.S159A
c.475T>G
7 papers
NM_021960.5
p.R248Q
c.743G>A
5 papers
NM_021960.5
p.E110del1
c.328_329delCTC
5 papers
NM_021960.5
p.L144P
c.431T>C
4 papers
NM_021960.5
p.L12L
c.36C>T
4 papers
NM_021960.5
p.D157N
c.469G>A
4 papers
NM_021960.5
p.V299L
c.895G>T
3 papers
NM_021960.5
p.L14H
c.41T>A
3 papers
NM_021960.5
p.A19fs
c.55_56fs
3 papers
NM_021960.5
p.L21_G24del0
c.61_72del12
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