Varaico: Literature-Extracted Genetic Variants

Gene:SOX6
Variant:p.M20V

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.M20V
c.58A>G
Surrounding Variants
1 paper
NM_001367873.1
p.E17D
c.51G>T
1 paper
NM_001367873.1
p.E17D
c.51G>C
1 paper
NM_001367873.1
p.T25insFs
c.73dupA
1 paper
NM_001367873.1
p.E31E
c.93G>A
1 paper
NM_001367873.1
p.S8insFs
c.22dupT
1 paper
NM_001367873.1
p.K4*
c.10A>T
1 paper
NM_001367873.1
p.S3delFs
c.8delG
1 paper
NM_001367873.1
p.S3F
c.8C>T
1 paper
NM_001367873.1
p.S53F
c.158C>T
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
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