Varaico: Literature-Extracted Genetic Variants

Gene:SOX6
Variant:p.A503V

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.A503V
c.1508C>T
Surrounding Variants
2 papers
NM_001367873.1
p.E513V
c.1538A>T
1 paper
NM_001367873.1
p.Q518*
c.1552C>T
1 paper
NM_001367873.1
p.Q518L
c.1553A>T
1 paper
NM_001367873.1
p.H520Y
c.1558C>T
1 paper
NM_001367873.1
p.D523N
c.1567G>A
1 paper
NM_001367873.1
p.S527F
c.1580C>T
1 paper
NM_001367873.1
p.L526_I529delFs
c.1577_1587del11
1 paper
NM_001367873.1
p.D479insFs
c.1435dupG
1 paper
NM_001367873.1
p.S476P
c.1426T>C
1 paper
NM_001367873.1
p.S466G
c.1396A>G
1 paper
NM_001367873.1
p.P443L
c.1328C>T
1 paper
NM_001367873.1
p.T433delFs
c.1297_1298delGT
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