Varaico: Literature-Extracted Genetic Variants

Gene:SOX3
Variant:p.R154delFs

SOX3

225 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 139–207UCSCHMG (high mobility group) box
SOXpaa 208–302UCSCSOX transcription factor

Gene Aliases

HGNC Name

SRY-box transcription factor 3

HGNC Previous Symbol

PHP

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
3 papers
NM_005634.3
p.R154delFs
c.462delC
Surrounding Variants
2 papers
NM_005634.3
p.R155fs
c.463_464fs
1 paper
NM_005634.3
p.R155H
c.464G>A
1 paper
NM_005634.3
p.S150_Q153del4
c.448_458del12
2 papers
NM_005634.3
p.K156insFs
c.467_468insT
1 paper
NM_005634.3
p.K156fs
c.466_467fs
1 paper
NM_005634.3
p.Q153*
c.457C>T
2 papers
NM_005634.3
p.A158P
c.472G>C
1 paper
NM_005634.3
p.A158G
c.473C>G
5 papers
NM_005634.3
p.S150Y
c.449C>A
1 paper
NM_005634.3
p.E160G
c.479A>G
1 paper
NM_005634.3
p.N161K
c.483C>G
1 paper
NM_005634.3
p.N161K
c.483C>A
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