Varaico: Literature-Extracted Genetic Variants

Gene:SOX6
Variant:p.S53F

SOX6

139 papers

RefSeq Summary

This gene encodes a member of the D subfamily of sex determining region y-related transcription factors that are characterized by a conserved DNA-binding domain termed the high mobility group box and ...

Pfam Domains

HMG_boxaa 621–689UCSCHMG (high mobility group) box

Gene Aliases

HGNC Name

SRY-box transcription factor 6

HGNC Previous Names

SRY (sex determining region Y)-box 6; SRY-box 6

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001367873.1
p.S53F
c.158C>T
Surrounding Variants
1 paper
NM_001367873.1
p.E55K
c.163G>A
1 paper
NM_001367873.1
p.D66D
c.198T>C
2 papers
NM_001367873.1
p.D68N
c.202G>A
1 paper
NM_001367873.1
p.D68A
c.203A>C
1 paper
NM_001367873.1
p.W69G
c.205T>G
1 paper
NM_001367873.1
p.W69C
c.207G>T
1 paper
NM_001367873.1
p.W69C
c.207G>C
1 paper
NM_001367873.1
p.D70Y
c.208G>T
1 paper
NM_001367873.1
p.E31E
c.93G>A
1 paper
NM_001367873.1
p.R78S
c.234A>T
1 paper
NM_001367873.1
p.R78S
c.234A>C
1 paper
NM_001367873.1
p.T25insFs
c.73dupA
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