Varaico: Literature-Extracted Genetic Variants

Gene:SOX6
Variant:p.E770*

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.E770*
c.2308G>T
Surrounding Variants
1 paper
NM_001367873.1
p.E770E
c.2310G>A
2 papers
NM_001367873.1
p.M758I
c.2274G>T
2 papers
NM_001367873.1
p.M758I
c.2274G>C
2 papers
NM_001367873.1
p.M758I
c.2274G>A
1 paper
NM_001367873.1
p.S755S
c.2265G>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."