Varaico: Literature-Extracted Genetic Variants

Gene:MCL1
Variant:p.L174V

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.L174V
c.520T>G
Surrounding Variants
1 paper
NM_021960.5
p.E170_E173del4
c.508_518del12
2 papers
NM_021960.5
p.L174S
c.521T>C
1 paper
NM_021960.5
p.L174*
c.521T>A
1 paper
NM_021960.5
p.L174F
c.522G>T
1 paper
NM_021960.5
p.E173A
c.518A>C
2 papers
NM_021960.5
p.E173K
c.517G>A
1 paper
NM_021960.5
p.E171del1
c.511_512delCTC
1 paper
NM_021960.5
p.Y175C
c.524A>G
1 paper
NM_021960.5
p.D172Y
c.514G>T
1 paper
NM_021960.5
p.D172N
c.514G>A
1 paper
NM_021960.5
p.R176W
c.526C>T
3 papers
NM_021960.5
p.E171D
c.513G>T
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."