Varaico: Literature-Extracted Genetic Variants

Gene:BNIP1
Variant:p.L40L

BNIP1

28 papers

RefSeq Summary

This gene is a member of the BCL2/adenovirus E1B 19 kd-interacting protein (BNIP) family. It interacts with the E1B 19 kDa protein, which protects cells from virally-induced cell death. The encoded pr...

Pfam Domains

Sec20aa 133–224UCSCSec20
Sec20aa 133–224UCSCSec20

Gene Aliases

HGNC Name

BCL2 interacting protein 1

HGNC Alias Symbols

Nip1; SEC20

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001205.3
p.L40L
c.120T>A
Surrounding Variants
1 paper
NM_001205.3
p.A39D
c.116C>A
1 paper
NM_001205.3
p.K48R
c.143A>G
1 paper
NM_001205.3
p.R31S
c.91C>A
1 paper
NM_001205.3
p.D29fs
c.85_86fs
1 paper
NM_001205.3
p.R55H
c.164G>A
1 paper
NM_001205.3
p.Q28_D29Splc
c.84+3A>T
1 paper
NM_001205.3
p.V23_Q28del0
c.67_84del18
1 paper
NM_001205.3
p.Q14H
c.42A>C
1 paper
NM_001205.3
p.Q14H
c.42A>T
5 papers
NM_001205.3
p.Q14*
c.40C>T
1 paper
NM_001205.3
p.Q5K
c.13C>A
1 paper
NM_001205.3
p.A3V
c.8C>T
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