Varaico: Literature-Extracted Genetic Variants

Gene:SOX12
Variant:p.D166D

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.D166D
c.498T>C
Surrounding Variants
1 paper
NM_006943.4
p.G146fs
c.436_437fs
1 paper
NM_006943.4
p.A192_S207del16
c.574_620del48
1 paper
NM_006943.4
p.A192_S207del0
c.575_619del45
1 paper
NM_006943.4
p.G139_P143insFs
c.415_428dup14
1 paper
NM_006943.4
p.A212_A213del0
c.634_639del6
1 paper
NM_006943.4
p.A216delFs
c.647delC
1 paper
NM_006943.4
p.P111P
c.333G>T
1 paper
NM_006943.4
p.R110P
c.329G>C
1 paper
NM_006943.4
p.K108T
c.323A>C
1 paper
NM_006943.4
p.E230del1
c.688_690delGAG
1 paper
NM_006943.4
p.D103D
c.309T>C
1 paper
NM_006943.4
p.E230K
c.688G>A
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