Varaico: Literature-Extracted Genetic Variants

Gene:MCL1
Variant:p.S60N

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.S60N
c.179G>A
Surrounding Variants
1 paper
NM_021960.5
p.S60T
c.179G>C
1 paper
NM_021960.5
p.S60R
c.180C>A
1 paper
NM_021960.5
p.S60G
c.178A>G
1 paper
NM_021960.5
p.A61S
c.181G>T
2 papers
NM_021960.5
p.G59R
c.175G>C
2 papers
NM_021960.5
p.G59R
c.175G>A
1 paper
NM_021960.5
p.G62S
c.184G>A
2 papers
NM_021960.5
p.G62D
c.185G>A
1 paper
NM_021960.5
p.G58S
c.172G>A
1 paper
NM_021960.5
p.I57M
c.171T>G
1 paper
NM_021960.5
p.I57I
c.171T>A
1 paper
NM_021960.5
p.A63T
c.187G>A
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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."