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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:OSTF1

Variant:p.E205A

OSTF1

26 papers

RefSeq Summary

Osteoclast-stimulating factor-1 is an intracellular protein produced by osteoclasts that indirectly induces osteoclast formation and bone resorption (Reddy et al., 1998 [PubMed 10092216]).[supplied by...

Pfam Domains

SH3_1aa 18–63UCSCSH3 domain

Ank_2aa 77–170UCSCAnkyrin repeats (3 copies)

Gene Aliases

HGNC Name

osteoclast stimulating factor 1

HGNC Alias Symbols

SH3P2; OSF; bA235O14.1

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

1 paper

chr9:75146710 A>C

NM_012383.5

p.E205A

c.614A>C

exact variant not in gnomAD14 overlapping SVs

Surrounding Variants

1 paper

chr9:75146721 G>A

NM_012383.5

p.D209N

c.625G>A

Exome: 0.1% (AC=824, hom=1)Genome: 0.0% (AC=53, hom=0)14 overlapping SVs

1 paper

chr9:75146721 G>T

NM_012383.5

p.D209Y

c.625G>T

Exome: 0.0% (AC=344, hom=0)Genome: 0.0% (AC=35, hom=0)14 overlapping SVs

1 paper

chr9:75146733 T>G

NM_012383.5

p.S213A

c.637T>G

exact variant not in gnomAD14 overlapping SVs

1 paper

chr9:75140877 C>T

NM_012383.5

p.F177F

c.531C>T

Ank_2

Exome: 0.0% (AC=8, hom=0)Genome: 0.0% (AC=7, hom=0)14 overlapping SVs

1 paper

chr9:75137604 C>T

NM_012383.5

p.L159F

c.475C>T

Ank_2

Exome: 0.0% (AC=1, hom=0)Genome: n/a12 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."