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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:BANP

Variant:p.V31A

BANP

36 papers

RefSeq Summary

This gene encodes a protein that binds to matrix attachment regions. The protein forms a complex with p53 and negatively regulates p53 transcription, and functions as a tumor suppressor and cell cycle...

Pfam Domains

BENaa 258–327UCSCBEN domain

Gene Aliases

HGNC Name

BTG3 associated nuclear protein

HGNC Alias Symbols

SMARBP1; SMAR1; FLJ20538; DKFZp761H172; FLJ10177; BEND1

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

1 paper

chr16:87981057 T>C

NM_001386991.1

p.V31A

c.92T>C

Exome: 0.0% (AC=224, hom=0)Genome: 0.0% (AC=3, hom=0)5 overlapping SVs

Surrounding Variants

1 paper

chr16:87978794 A>G

NM_001386991.1

p.V24Splc

c.71-2242A>G

exact variant not in gnomAD6 overlapping SVs

1 paper

chr16:87984180 A>C

NM_001386991.1

p.K95Q

c.283A>C

Exome: 0.0% (AC=82, hom=0)Genome: 0.0% (AC=3, hom=0)5 overlapping SVs

1 paper

chr16:87984195 A>C

NM_001386991.1

p.I100L

c.298A>C

Exome: 0.0% (AC=59, hom=0)Genome: 0.0% (AC=8, hom=0)5 overlapping SVs

1 paper

chr16:87984203 C>T

NM_001386991.1

p.V102V

c.306C>T

Exome: 63.1% (AC=916270, hom=294059)Genome: 65.7% (AC=99972, hom=33468)5 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."