Varaico: Literature-Extracted Genetic Variants

Gene:SOX6
Variant:p.A317P

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.A317P
c.949G>C
Surrounding Variants
1 paper
NM_001367873.1
p.A316S
c.946G>T
1 paper
NM_001367873.1
p.M312V
c.934A>G
1 paper
NM_001367873.1
p.T311insFs
c.931_932ins4
1 paper
NM_001367873.1
p.S310T
c.928T>A
1 paper
NM_001367873.1
p.Q324H
c.972G>T
1 paper
NM_001367873.1
p.Q324H
c.972G>C
1 paper
NM_001367873.1
p.Q337R
c.1010A>G
1 paper
NM_001367873.1
p.D344N
c.1030G>A
1 paper
NM_001367873.1
p.D344E
c.1032C>G
1 paper
NM_001367873.1
p.D344E
c.1032C>A
1 paper
NM_001367873.1
p.G347A
c.1040G>C
1 paper
NM_001367873.1
p.G357S
c.1069G>A
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."