Varaico: Literature-Extracted Genetic Variants

Gene:MCL1
Variant:p.P131Q

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.P131Q
c.392C>A
Surrounding Variants
1 paper
NM_021960.5
p.P131L
c.392C>T
1 paper
NM_021960.5
p.P131S
c.391C>T
1 paper
NM_021960.5
p.E132K
c.394G>A
1 paper
NM_021960.5
p.E130E
c.390G>A
1 paper
NM_021960.5
p.E132V
c.395A>T
1 paper
NM_021960.5
p.E132A
c.395A>C
1 paper
NM_021960.5
p.E132D
c.396G>T
1 paper
NM_021960.5
p.E130Q
c.388G>C
2 papers
NM_021960.5
p.E130K
c.388G>A
1 paper
NM_021960.5
p.Y129*
c.387C>G
1 paper
NM_021960.5
p.Y129*
c.387C>A
1 paper
NM_021960.5
p.P133L
c.398C>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."