Varaico: Literature-Extracted Genetic Variants

Gene:SOX30
Variant:p.T296I

SOX30

50 papers

RefSeq Summary

This gene encodes a member of the SOX (SRY-related HMG-box) family of transcription factors involved in the regulation of embryonic development and in the determination of the cell fate. The encoded p...

Pfam Domains

HMG_boxaa 337–405UCSCHMG (high mobility group) box

Gene Aliases

HGNC Name

SRY-box transcription factor 30

HGNC Previous Names

SRY (sex determining region Y)-box 30; SRY-box 30

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_178424.2
p.T296I
c.887C>T
Surrounding Variants
1 paper
NM_178424.2
p.Q299E
c.895C>G
1 paper
NM_178424.2
p.S305fs
c.913_914fs
1 paper
NM_178424.2
p.K307N
c.921A>T
1 paper
NM_178424.2
p.K307N
c.921A>C
1 paper
NM_178424.2
p.G277E
c.830G>A
1 paper
NM_178424.2
p.V317M
c.949G>A
1 paper
NM_178424.2
p.T266R
c.797C>G
1 paper
NM_178424.2
p.L235V
c.703C>G
1 paper
NM_178424.2
p.V211M
c.631G>A
1 paper
NM_178424.2
p.Q197K
c.589C>A
1 paper
NM_178424.2
p.E190K
c.568G>A
1 paper
NM_178424.2
p.E182V
c.545A>T
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