Varaico: Literature-Extracted Genetic Variants

Gene:SOBP
Variant:p.P441S

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
1 paper
NM_018013.4
p.P441S
c.1321C>T
Surrounding Variants
1 paper
NM_018013.4
p.S457L
c.1370C>T
1 paper
NM_018013.4
p.S424N
c.1271G>A
1 paper
NM_018013.4
p.P463P
c.1389G>C
1 paper
NM_018013.4
p.R413H
c.1238G>A
1 paper
NM_018013.4
p.G470R
c.1408G>A
1 paper
NM_018013.4
p.G470R
c.1408G>C
1 paper
NM_018013.4
p.R408H
c.1223G>A
1 paper
NM_018013.4
p.Q406P
c.1217A>C
1 paper
NM_018013.4
p.Q405*
c.1213C>T
1 paper
NM_018013.4
p.M404_I407del0
c.1210_1221del12
1 paper
NM_018013.4
p.P392L
c.1175C>T
1 paper
NM_018013.4
p.P492L
c.1475C>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."