Varaico: Literature-Extracted Genetic Variants

Gene:SOBP
Variant:p.R661*

SOBP

80 papers

RefSeq Summary

The protein encoded by this gene is a nuclear zinc finger protein that is involved in development of the cochlea. Defects in this gene have also been linked to intellectual disability. [provided by Re...

Pfam Domains

zf-FCSaa 145–181UCSCMYM-type Zinc finger with FCS sequence motif
SOBPaa 224–543UCSCSine oculis-binding protein

Gene Aliases

HGNC Name

sine oculis binding protein homolog

HGNC Alias Symbol

FLJ10159

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
3 papers
NM_018013.4
p.R661*
c.1981C>T
Surrounding Variants
1 paper
NM_018013.4
p.V653A
c.1958T>C
1 paper
NM_018013.4
p.A671S
c.2011G>T
1 paper
NM_018013.4
p.S683G
c.2047A>G
1 paper
NM_018013.4
p.E686G
c.2057A>G
1 paper
NM_018013.4
p.S629fs
c.1885_1886fs
1 paper
NM_018013.4
p.V621A
c.1862T>C
1 paper
NM_018013.4
p.V620A
c.1859T>C
1 paper
NM_018013.4
p.P612S
c.1834C>T
1 paper
NM_018013.4
p.P711P
c.2133G>A
1 paper
NM_018013.4
p.A609V
c.1826C>T
1 paper
NM_018013.4
p.G603R
c.1807G>C
1 paper
NM_018013.4
p.P598insFs
c.1792dupC
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