Varaico: Literature-Extracted Genetic Variants

Gene:SOX12
Variant:p.G240A

SOX12

27 papers

RefSeq Summary

Members of the SOX family of transcription factors are characterized by the presence of a DNA-binding high mobility group (HMG) domain, homologous to the HMG box of sex-determining region Y (SRY). For...

Pfam Domains

HMG_boxaa 40–108UCSCHMG (high mobility group) box

Gene Aliases

HGNC Name

SRY-box transcription factor 12

HGNC Previous Symbol

SOX22

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_006943.4
p.G240A
c.719G>C
Surrounding Variants
1 paper
NM_006943.4
p.E243K
c.727G>A
1 paper
NM_006943.4
p.E243G
c.728A>G
1 paper
NM_006943.4
p.T244_S251del0
c.730_753del24
1 paper
NM_006943.4
p.A236V
c.707C>T
1 paper
NM_006943.4
p.A234E
c.701C>A
1 paper
NM_006943.4
p.E230K
c.688G>A
1 paper
NM_006943.4
p.E230del1
c.688_690delGAG
1 paper
NM_006943.4
p.P262T
c.784C>A
1 paper
NM_006943.4
p.A216delFs
c.647delC
1 paper
NM_006943.4
p.A212_A213del0
c.634_639del6
1 paper
NM_006943.4
p.E286K
c.856G>A
1 paper
NM_006943.4
p.A192_S207del0
c.575_619del45
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