Varaico: Literature-Extracted Genetic Variants

Gene:SOBP

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
1–12 of 92 variants
3 papers
NM_018013.4
p.R661*
c.1981C>T
2 papers
NM_018013.4
p.P750_P751del1
c.2250_2252delGCC
2 papers
NM_018013.4
p.G825S
c.2473G>A
1 paper
NM_018013.4
p.P22L
c.65C>T
1 paper
NM_018013.4
p.E30del1
c.88_90delGAG
1 paper
NM_018013.4
p.K32_N33Splc
c.96+15C>T
1 paper
NM_018013.4
p.G44fs
c.130_131fs
1 paper
NM_018013.4
p.D58N
c.172G>A
1 paper
NM_018013.4
p.E79G
c.236A>G
1 paper
NM_018013.4
p.D120N
c.358G>A
1 paper
NM_018013.4
p.V128E
c.383T>A
1 paper
NM_018013.4
p.P129S
c.385C>T
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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."