Varaico: Literature-Extracted Genetic Variants

Gene:SOX30

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
1–12 of 90 variants
5 papers
NM_178424.2
p.P152L
c.455C>T
2 papers
NM_178424.2
p.N342N
c.1026C>T
2 papers
NM_178424.2
p.R409H
c.1226G>A
1 paper
NM_178424.2
p.E2K
c.4G>A
1 paper
NM_178424.2
p.E7K
c.19G>A
1 paper
NM_178424.2
p.P36H
c.107C>A
1 paper
NM_178424.2
p.P38Q
c.113C>A
1 paper
NM_178424.2
p.P41L
c.122C>T
1 paper
NM_178424.2
p.S48N
c.143G>A
1 paper
NM_178424.2
p.Q64R
c.191A>G
1 paper
NM_178424.2
p.Q85E
c.253C>G
1 paper
NM_178424.2
p.S94*
c.281C>A
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