Varaico: Literature-Extracted Genetic Variants

Gene:SOX6
Variant:p.G179Splc

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.G179Splc
c.535+9T>A
Surrounding Variants
11 papers
NM_001367873.1
p.R167G
c.499A>G
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