Varaico: Literature-Extracted Genetic Variants

Gene:SOBP
Variant:p.P598insFs

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.P598insFs
c.1792dupC
Surrounding Variants
1 paper
NM_018013.4
p.S597fs
c.1789_1790fs
1 paper
NM_018013.4
p.S592S
c.1776C>T
1 paper
NM_018013.4
p.G603R
c.1807G>C
1 paper
NM_018013.4
p.S587Y
c.1760C>A
1 paper
NM_018013.4
p.A609V
c.1826C>T
1 paper
NM_018013.4
p.P612S
c.1834C>T
1 paper
NM_018013.4
p.P577S
c.1729C>T
1 paper
NM_018013.4
p.V620A
c.1859T>C
1 paper
NM_018013.4
p.V621A
c.1862T>C
1 paper
NM_018013.4
p.D569Y
c.1705G>T
1 paper
NM_018013.4
p.S629fs
c.1885_1886fs
1 paper
NM_018013.4
p.S547R
c.1641C>A
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."