Varaico: Literature-Extracted Genetic Variants

Gene:SOBP
Variant:p.P749_P751ins1

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.P749_P751ins1
c.2247_2252dup6
Surrounding Variants
2 papers
NM_018013.4
p.P750_P751del1
c.2250_2252delGCC
1 paper
NM_018013.4
p.Q744_P745del2
c.2230_2234del6
1 paper
NM_018013.4
p.P746fs
c.2236_2237fs
1 paper
NM_018013.4
p.P746delFs
c.2238delG
1 paper
NM_018013.4
p.P751del1
c.2251_2252delCCC
1 paper
NM_018013.4
p.R728delFs
c.2184delC
1 paper
NM_018013.4
p.A764E
c.2291C>A
1 paper
NM_018013.4
p.A764V
c.2291C>T
1 paper
NM_018013.4
p.V765A
c.2294T>C
1 paper
NM_018013.4
p.P711P
c.2133G>A
1 paper
NM_018013.4
p.G784R
c.2350G>A
1 paper
NM_018013.4
p.G784R
c.2350G>C
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