Varaico: Literature-Extracted Genetic Variants

Gene:SOX30
Variant:p.S149L

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.S149L
c.446C>T
Surrounding Variants
1 paper
NM_178424.2
p.G151R
c.451G>C
1 paper
NM_178424.2
p.G151R
c.451G>A
1 paper
NM_178424.2
p.P152S
c.454C>T
5 papers
NM_178424.2
p.P152L
c.455C>T
1 paper
NM_178424.2
p.P144T
c.430C>A
1 paper
NM_178424.2
p.E157K
c.469G>A
1 paper
NM_178424.2
p.T158A
c.472A>G
1 paper
NM_178424.2
p.S163F
c.488C>T
1 paper
NM_178424.2
p.A132fs
c.394_395fs
1 paper
NM_178424.2
p.E124_L125delFs
c.370_373del4
1 paper
NM_178424.2
p.A174_F178Fs
c.522_534delinsGGFs
1 paper
NM_178424.2
p.A119T
c.355G>A
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