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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:BNIP2

Variant:p.P39T

BNIP2

9 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

BNIP2aa 49–163UCSCBcl2-/adenovirus E1B nineteen kDa-interacting protein 2

CRAL_TRIO_2aa 164–303UCSCDivergent CRAL/TRIO domain

Gene Aliases

HGNC Name

BCL2 interacting protein 2

HGNC Alias Symbols

Nip2; BNIP-2

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

1 paper

chr15:59680244 G>T

NM_004330.4

p.P39T

c.115C>A

Exome: 0.0% (AC=0, hom=0)Genome: n/a21 overlapping SVs

Surrounding Variants

1 paper

chr15:59679747 T>C

NM_004330.4

p.N47S

c.140A>G

Exome: 0.2% (AC=2354, hom=6)Genome: 0.1% (AC=171, hom=2)21 overlapping SVs

1 paper

chr15:59679721 G>T

NM_004330.4

p.P56T

c.166C>A

BNIP2

exact variant not in gnomAD21 overlapping SVs

1 paper

chr15:59671252 C>T

NM_004330.4

p.G213D

c.638G>A

CRAL_TRIO_2

Exome: 0.0% (AC=0, hom=0)Genome: n/a22 overlapping SVs

1 paper

chr15:59671186 C>T

NM_004330.4

p.R235K

c.704G>A

CRAL_TRIO_2

Exome: 0.0% (AC=0, hom=0)Genome: n/a22 overlapping SVs

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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."