Varaico: Literature-Extracted Genetic Variants

Gene:MCL1
Variant:p.S206R

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
2 papers
NM_021960.5
p.S206R
c.616A>C
Surrounding Variants
1 paper
NM_021960.5
p.S206C
c.616A>T
1 paper
NM_021960.5
p.S206G
c.616A>G
2 papers
NM_021960.5
p.S206N
c.617G>A
1 paper
NM_021960.5
p.T205I
c.614C>T
1 paper
NM_021960.5
p.S206R
c.618C>G
1 paper
NM_021960.5
p.S206R
c.618C>A
1 paper
NM_021960.5
p.T205S
c.613A>T
1 paper
NM_021960.5
p.R207K
c.620G>A
1 paper
NM_021960.5
p.A204A
c.612C>A
1 paper
NM_021960.5
p.A204S
c.610G>T
1 paper
NM_021960.5
p.A204T
c.610G>A
1 paper
NM_021960.5
p.K208fs
c.622_623fs
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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."