Varaico: Literature-Extracted Genetic Variants

Gene:MCL1
Variant:p.A44V

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.A44V
c.131C>T
Surrounding Variants
1 paper
NM_021960.5
p.A44P
c.130G>C
1 paper
NM_021960.5
p.A44A
c.132C>G
1 paper
NM_021960.5
p.A44A
c.132C>A
1 paper
NM_021960.5
p.R45P
c.134G>C
1 paper
NM_021960.5
p.R45Q
c.134G>A
1 paper
NM_021960.5
p.S43L
c.128C>T
1 paper
NM_021960.5
p.S43*
c.128C>A
1 paper
NM_021960.5
p.A42_S43delins
c.126_127delinsAA
1 paper
NM_021960.5
p.R46*
c.136C>T
1 paper
NM_021960.5
p.R46Q
c.137G>A
1 paper
NM_021960.5
p.A42V
c.125C>T
1 paper
NM_021960.5
p.A42insFs
c.125_126ins4
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."