Varaico: Literature-Extracted Genetic Variants

Gene:BCL2L11
Variant:p.D7D

BCL2L11

177 papers

RefSeq Summary

The protein encoded by this gene belongs to the BCL-2 protein family. BCL-2 family members form hetero- or homodimers and act as anti- or pro-apoptotic regulators that are involved in a wide variety o...

Pfam Domains

Bim_Naa 4–40UCSCBim protein N-terminus
Bclx_interactaa 133–168UCSCBcl-x interacting, BH3 domain
Bclx_interactaa 133–168UCSCBcl-x interacting, BH3 domain

Gene Aliases

HGNC Name

BCL2 like 11

HGNC Alias Symbols

BimL; BimEL; BimS; BIM

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_138621.5
p.D7D
c.21T>C
Surrounding Variants
1 paper
NM_138621.5
p.D7E
c.21T>G
1 paper
NM_138621.5
p.D7delFs
c.19delG
1 paper
NM_138621.5
p.E11Q
c.31G>C
1 paper
NM_138621.5
p.C12S
c.34T>A
1 paper
NM_138621.5
p.M1I
c.3G>A
1 paper
NM_138621.5
p.R14*
c.40C>T
1 paper
NM_138621.5
p.M1insFs
c.3dupG
2 papers
NM_138621.5
p.M1insFs
c.2dupT
1 paper
NM_138621.5
p.M1insFs
c.1dupA
1 paper
NM_138621.5
p.Q18E
c.52C>G
1 paper
NM_138621.5
p.Q18*
c.52C>T
1 paper
NM_138621.5
p.L19del1
c.55_56delTTG
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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."