Varaico: Literature-Extracted Genetic Variants

Gene:SOX3
Variant:p.A238_A248ins3

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
2 papers
NM_005634.3
p.A238_A248ins3
c.712_744dup33
Surrounding Variants
1 paper
NM_005634.3
p.A248insFs
c.743dupC
3 papers
NM_005634.3
p.A243_A248del6
c.727_743del18
2 papers
NM_005634.3
p.A240_A248del9
c.718_743del27
1 paper
NM_005634.3
p.A248P
c.742G>C
1 paper
NM_005634.3
p.A240_A247ins2
c.720_740dup21
1 paper
NM_005634.3
p.A245_A246ins0
c.735_737dupCGC
1 paper
NM_005634.3
p.A239_A245del7
c.715_734del21
2 papers
NM_005634.3
p.A244A
c.732A>C
2 papers
NM_005634.3
p.G233_A240del0
c.699_719del21
2 papers
NM_005634.3
p.A234_A242del9
c.700_725del27
1 paper
NM_005634.3
p.A241T
c.721G>A
2 papers
NM_005634.3
p.A240_A241ins7
c.718_722ins21
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."