Varaico: Literature-Extracted Genetic Variants

Gene:MCL1
Variant:p.R184R

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.R184R
c.552G>C
Surrounding Variants
2 papers
NM_021960.5
p.R184W
c.550C>T
1 paper
NM_021960.5
p.R184R
c.550C>A
1 paper
NM_021960.5
p.L186F
c.556C>T
1 paper
NM_021960.5
p.S183C
c.548C>G
1 paper
NM_021960.5
p.R187W
c.559C>T
1 paper
NM_021960.5
p.I182L
c.544A>C
1 paper
NM_021960.5
p.R187R
c.561G>C
1 paper
NM_021960.5
p.E188Q
c.562G>C
1 paper
NM_021960.5
p.E188K
c.562G>A
1 paper
NM_021960.5
p.E188V
c.563A>T
1 paper
NM_021960.5
p.I181V
c.541A>G
2 papers
NM_021960.5
p.Q189*
c.565C>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."