Varaico: Literature-Extracted Genetic Variants

Gene:SOX6
Variant:p.I195T

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.I195T
c.584T>C
Surrounding Variants
2 papers
NM_001367873.1
p.T196I
c.587C>T
2 papers
NM_001367873.1
p.R189W
c.565C>T
1 paper
NM_001367873.1
p.E186G
c.557A>G
1 paper
NM_001367873.1
p.G179A
c.536G>C
1 paper
NM_001367873.1
p.K214Q
c.640A>C
1 paper
NM_001367873.1
p.H209_A217del0
c.625_651del27
1 paper
NM_001367873.1
p.E221K
c.661G>A
1 paper
NM_001367873.1
p.K222R
c.665A>G
1 paper
NM_001367873.1
p.R231H
c.692G>A
1 paper
NM_001367873.1
p.Q233delFs
c.698delT
1 paper
NM_001367873.1
p.A238V
c.713C>T
1 paper
NM_001367873.1
p.N252K
c.756T>G
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