Varaico: Literature-Extracted Genetic Variants

Gene:SOX6
Variant:p.D344E

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.D344E
c.1032C>A
Surrounding Variants
1 paper
NM_001367873.1
p.D344E
c.1032C>G
1 paper
NM_001367873.1
p.D344N
c.1030G>A
1 paper
NM_001367873.1
p.G347A
c.1040G>C
1 paper
NM_001367873.1
p.Q337R
c.1010A>G
1 paper
NM_001367873.1
p.G357S
c.1069G>A
1 paper
NM_001367873.1
p.G357D
c.1070G>A
1 paper
NM_001367873.1
p.K364delFs
c.1091delT
1 paper
NM_001367873.1
p.E367delFs
c.1100delT
1 paper
NM_001367873.1
p.Q324H
c.972G>T
1 paper
NM_001367873.1
p.Q324H
c.972G>C
2 papers
NM_001367873.1
p.A317P
c.949G>C
1 paper
NM_001367873.1
p.A316S
c.946G>T
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