Varaico: Literature-Extracted Genetic Variants

Gene:MCL1
Variant:p.L14H

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
3 papers
NM_021960.5
p.L14H
c.41T>A
Surrounding Variants
1 paper
NM_021960.5
p.L14P
c.41T>C
1 paper
NM_021960.5
p.L14I
c.40C>A
1 paper
NM_021960.5
p.Y15N
c.43T>A
1 paper
NM_021960.5
p.Y15S
c.44A>C
1 paper
NM_021960.5
p.Y15*
c.45C>G
1 paper
NM_021960.5
p.N13Y
c.37A>T
1 paper
NM_021960.5
p.Y15delFs
c.45delG
4 papers
NM_021960.5
p.L12L
c.36C>T
1 paper
NM_021960.5
p.L12P
c.35T>C
1 paper
NM_021960.5
p.C16Y
c.47G>A
1 paper
NM_021960.5
p.C16C
c.48T>C
1 paper
NM_021960.5
p.L12F
c.34C>T
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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."