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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:OTOS

OTOS

8 papers

RefSeq Summary

Otospiralin is synthesized by nonsensory cells (fibrocytes) of the inner ear, and downregulation of otospiralin in guinea pigs leads to deafness (Lavigne-Rebillard et al., 2003 [PubMed 12687421]).[sup...

Pfam Domains

OTOSaa 21–89UCSCOtospiralin

Gene Aliases

HGNC Name

otospiralin

HGNC Alias Symbol

OTOSP

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

2 papers

chr2:240140307 G>A

NM_148961.4

p.P7L

c.20C>T

Exome: 0.3% (AC=4637, hom=12)Genome: 0.2% (AC=296, hom=1)7 overlapping SVs

2 papers

chr2:240139318 G>C

NM_148961.4

p.P41R

c.122C>G

OTOS

exact variant not in gnomAD8 overlapping SVs

2 papers

chr2:240139256 G>A

NM_148961.4

p.Q62*

c.184C>T

OTOS

Exome: 0.1% (AC=1083, hom=1)Genome: 0.1% (AC=95, hom=0)8 overlapping SVs

1 paper

chr2:240139382 G>C

NM_148961.4

p.D29Splc

c.86-28C>G

Exome: 0.0% (AC=1, hom=0)Genome: n/a8 overlapping SVs

1 paper

chr2:240139286 G>A

NM_148961.4

p.Q52*

c.154C>T

OTOS

Exome: 0.0% (AC=26, hom=0)Genome: 0.0% (AC=1, hom=0)8 overlapping SVs

1 paper

chr2:240139260 G>C

NM_148961.4

p.Y60*

c.180C>G

OTOS

exact variant not in gnomAD8 overlapping SVs

1 paper

chr2:240139260 G>T

NM_148961.4

p.Y60*

c.180C>A

OTOS

Exome: 0.0% (AC=3, hom=0)Genome: 0.0% (AC=1, hom=0)8 overlapping SVs

1 paper

chr2:240139237 C>T

NM_148961.4

p.R68Q

c.203G>A

OTOS

Exome: 0.0% (AC=12, hom=0)Genome: 0.0% (AC=6, hom=0)8 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."