Varaico: Literature-Extracted Genetic Variants

Gene:SOBP
Variant:p.Y527*

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.Y527*
c.1581C>A
Surrounding Variants
1 paper
NM_018013.4
p.Y527*
c.1581C>G
1 paper
NM_018013.4
p.V525fs
c.1573_1574fs
1 paper
NM_018013.4
p.V525insFs
c.1573_1574ins10
1 paper
NM_018013.4
p.P534L
c.1601C>T
1 paper
NM_018013.4
p.I541N
c.1622T>A
1 paper
NM_018013.4
p.P512P
c.1536G>A
1 paper
NM_018013.4
p.H545P
c.1634A>C
1 paper
NM_018013.4
p.S547R
c.1639A>C
1 paper
NM_018013.4
p.S547R
c.1641C>A
1 paper
NM_018013.4
p.S547R
c.1641C>G
1 paper
NM_018013.4
p.P492L
c.1475C>T
1 paper
NM_018013.4
p.D569Y
c.1705G>T
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