Varaico: Literature-Extracted Genetic Variants

Gene:BCL2A1
Variant:p.N39K

BCL2A1

94 papers

RefSeq Summary

This gene encodes a member of the BCL-2 protein family. The proteins of this family form hetero- or homodimers and act as anti- and pro-apoptotic regulators that are involved in a wide variety of cell...

Pfam Domains

Bcl-2aa 37–140UCSCApoptosis regulator proteins, Bcl-2 family

Gene Aliases

HGNC Name

BCL2 related protein A1

HGNC Previous Symbol

HBPA1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
5 papers
NM_004049.4
p.N39K
c.117T>G
Surrounding Variants
5 papers
NM_004049.4
p.N39K
c.117T>A
1 paper
NM_004049.4
p.V40A
c.119T>C
1 paper
NM_004049.4
p.A41V
c.122C>T
1 paper
NM_004049.4
p.Q38K
c.112C>A
1 paper
NM_004049.4
p.A41_F42insFs
c.123_124ins5
1 paper
NM_004049.4
p.S28_V36delFs
c.84_108del25
1 paper
NM_004049.4
p.S43insFs
c.129dupA
1 paper
NM_004049.4
p.R35Fs
c.104delinsTCCFs
1 paper
NM_004049.4
p.T33_R35Fs
c.98_104delinsTCCFs
1 paper
NM_004049.4
p.T33S
c.97A>T
1 paper
NM_004049.4
p.S31insFs
c.91_92insC
1 paper
NM_004049.4
p.G29D
c.86G>A
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