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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:BOLL

Variant:p.M270I

BOLL

25 papers

RefSeq Summary

This gene belongs to the DAZ gene family required for germ cell development. It encodes an RNA-binding protein which is more similar to Drosophila Boule than to human proteins encoded by genes DAZ (de...

Pfam Domains

RRM_1aa 35–104UCSCRNA recognition motif

Gene Aliases

HGNC Name

boule RNA binding protein

HGNC Alias Symbol

BOULE

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

2 papers

chr2:197743079 C>T

NM_033030.6

p.M270I

c.810G>A

Exome: 0.1% (AC=2159, hom=48)Genome: 0.1% (AC=125, hom=0)133 overlapping SVs

Surrounding Variants

1 paper

chr2:197743079 C>A

NM_033030.6

p.M270I

c.810G>T

Exome: 0.0% (AC=0, hom=0)Genome: n/a133 overlapping SVs

1 paper

chr2:197743079 C>G

NM_033030.6

p.M270I

c.810G>C

exact variant not in gnomAD133 overlapping SVs

1 paper

chr2:197743083 A>G

NM_033030.6

p.V269A

c.806T>C

exact variant not in gnomAD133 overlapping SVs

1 paper

chr2:197743096 T>C

NM_033030.6

p.M265V

c.793A>G

Exome: 0.0% (AC=16, hom=0)Genome: 0.0% (AC=3, hom=0)133 overlapping SVs

1 paper

chr2:197743110 G>A

NM_033030.6

p.P260L

c.779C>T

exact variant not in gnomAD133 overlapping SVs

1 paper

chr2:197736006 T>G

NM_033030.6

p.K276_T277Splc

c.828+7055A>C

Exome: n/aGenome: 72.3% (AC=109816, hom=40866)135 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."