Varaico: Literature-Extracted Genetic Variants

Gene:SOX12
Variant:p.K108T

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.K108T
c.323A>C
Surrounding Variants
1 paper
NM_006943.4
p.R110P
c.329G>C
1 paper
NM_006943.4
p.P111P
c.333G>T
1 paper
NM_006943.4
p.D103D
c.309T>C
1 paper
NM_006943.4
p.A102V
c.305C>T
1 paper
NM_006943.4
p.G139_P143insFs
c.415_428dup14
2 papers
NM_006943.4
p.R77H
c.230G>A
1 paper
NM_006943.4
p.S71delFs
c.212_213delCC
1 paper
NM_006943.4
p.G146fs
c.436_437fs
1 paper
NM_006943.4
p.D64_E69delFs
c.192_207del16
1 paper
NM_006943.4
p.D166D
c.498T>C
1 paper
NM_006943.4
p.G38_M44delFs
c.112_131del20
1 paper
NM_006943.4
p.A192_S207del16
c.574_620del48
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