Varaico: Literature-Extracted Genetic Variants

Gene:SOX6
Variant:p.S81*

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
2 papers
NM_001367873.1
p.S81*
c.242C>G
Surrounding Variants
1 paper
NM_001367873.1
p.S81*
c.242C>A
1 paper
NM_001367873.1
p.M79_E80Splc
c.238-1G>A
1 paper
NM_001367873.1
p.K85Q
c.253A>C
2 papers
NM_001367873.1
p.R93*
c.277C>T
1 paper
NM_001367873.1
p.N94I
c.281A>T
1 paper
NM_001367873.1
p.P99S
c.295C>T
1 paper
NM_001367873.1
p.P99L
c.296C>T
1 paper
NM_001367873.1
p.G105A
c.314G>C
1 paper
NM_001367873.1
p.R109C
c.325C>T
1 paper
NM_001367873.1
p.V131V
c.393G>A
1 paper
NM_001367873.1
p.D132D
c.396C>T
1 paper
NM_001367873.1
p.E140G
c.419A>G
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