Varaico: Literature-Extracted Genetic Variants

Gene:SOX6

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
1–12 of 138 variants
11 papers
NM_001367873.1
p.R167G
c.499A>G
2 papers
NM_001367873.1
p.D68N
c.202G>A
2 papers
NM_001367873.1
p.S81*
c.242C>G
2 papers
NM_001367873.1
p.R93*
c.277C>T
2 papers
NM_001367873.1
p.R189W
c.565C>T
2 papers
NM_001367873.1
p.T196I
c.587C>T
2 papers
NM_001367873.1
p.F291_K298delFs
c.871_893del23
2 papers
NM_001367873.1
p.A317P
c.949G>C
2 papers
NM_001367873.1
p.A503V
c.1508C>T
2 papers
NM_001367873.1
p.E513V
c.1538A>T
2 papers
NM_001367873.1
p.M758I
c.2274G>T
2 papers
NM_001367873.1
p.M758I
c.2274G>C
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."