Varaico: Literature-Extracted Genetic Variants

Gene:SOX30
Variant:p.P457L

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.P457L
c.1370C>T
Surrounding Variants
1 paper
NM_178424.2
p.G463Splc
c.1387+20G>A
1 paper
NM_178424.2
p.R443H
c.1328G>A
1 paper
NM_178424.2
p.Q429K
c.1285C>A
1 paper
NM_178424.2
p.R413*
c.1237C>T
2 papers
NM_178424.2
p.R409H
c.1226G>A
1 paper
NM_178424.2
p.E399A
c.1196A>C
1 paper
NM_178424.2
p.K396N
c.1188G>T
1 paper
NM_178424.2
p.K396N
c.1188G>C
1 paper
NM_178424.2
p.K396T
c.1187A>C
1 paper
NM_178424.2
p.E395del1
c.1183_1184delTTC
1 paper
NM_178424.2
p.Q391E
c.1171C>G
1 paper
NM_178424.2
p.K383N
c.1149G>T
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