Varaico: Literature-Extracted Genetic Variants

Gene:MCL1
Variant:p.V76L

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.V76L
c.226G>C
Surrounding Variants
2 papers
NM_021960.5
p.V76I
c.226G>A
1 paper
NM_021960.5
p.R75M
c.224G>T
1 paper
NM_021960.5
p.R75W
c.223A>T
1 paper
NM_021960.5
p.R74R
c.222G>T
1 paper
NM_021960.5
p.R78L
c.233G>T
1 paper
NM_021960.5
p.R78Q
c.233G>A
1 paper
NM_021960.5
p.A61_D72del12
c.181_215del36
2 papers
NM_021960.5
p.P79T
c.235C>A
1 paper
NM_021960.5
p.D72G
c.215A>G
1 paper
NM_021960.5
p.P80fs
c.238_239fs
1 paper
NM_021960.5
p.P80S
c.238C>T
1 paper
NM_021960.5
p.P79_P80delins
c.237_238delinsCT
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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."