Varaico: Literature-Extracted Genetic Variants

Gene:SOX30
Variant:p.S94*

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.S94*
c.281C>A
Surrounding Variants
1 paper
NM_178424.2
p.Q85E
c.253C>G
1 paper
NM_178424.2
p.D106G
c.317A>G
1 paper
NM_178424.2
p.R108L
c.323G>T
1 paper
NM_178424.2
p.P112R
c.335C>G
1 paper
NM_178424.2
p.P112P
c.336G>C
1 paper
NM_178424.2
p.P112P
c.336G>A
1 paper
NM_178424.2
p.A119T
c.355G>A
1 paper
NM_178424.2
p.Q64R
c.191A>G
1 paper
NM_178424.2
p.E124_L125delFs
c.370_373del4
1 paper
NM_178424.2
p.A132fs
c.394_395fs
1 paper
NM_178424.2
p.S48N
c.143G>A
1 paper
NM_178424.2
p.P144T
c.430C>A
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