Varaico: Literature-Extracted Genetic Variants

Gene:BCL2L13
Variant:p.E274Q

BCL2L13

47 papers

RefSeq Summary

This gene encodes a mitochondrially-localized protein with conserved B-cell lymphoma 2 homology motifs. Overexpression of the encoded protein results in apoptosis. Alternatively spliced transcript var...

Pfam Domains

Bcl-2aa 104–200UCSCApoptosis regulator proteins, Bcl-2 family

Gene Aliases

HGNC Name

BCL2 like 13

HGNC Alias Symbols

MIL1; BCL-RAMBO

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_015367.4
p.E274Q
c.820G>C
Surrounding Variants
1 paper
NM_015367.4
p.E274D
c.822G>C
1 paper
NM_015367.4
p.E274D
c.822G>T
1 paper
NM_015367.4
p.S246Y
c.737C>A
1 paper
NM_015367.4
p.T245I
c.734C>T
1 paper
NM_015367.4
p.S240delFs
c.720delT
1 paper
NM_015367.4
p.V310A
c.929T>C
1 paper
NM_015367.4
p.P228L
c.683C>T
1 paper
NM_015367.4
p.A218S
c.652G>T
1 paper
NM_015367.4
p.I216V
c.646A>G
1 paper
NM_015367.4
p.V203A
c.608T>C
1 paper
NM_015367.4
p.G201G
c.603C>A
5 papers
NM_015367.4
p.P360S
c.1078C>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."