Varaico: Literature-Extracted Genetic Variants

Gene:SOX3
Variant:p.K193N

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
1 paper
NM_005634.3
p.K193N
c.579G>T
Surrounding Variants
1 paper
NM_005634.3
p.K193N
c.579G>C
1 paper
NM_005634.3
p.R196C
c.586C>T
2 papers
NM_005634.3
p.D190_E191delFs
c.568_571del4
1 paper
NM_005634.3
p.A197T
c.589G>A
1 paper
NM_005634.3
p.D190fs
c.568_569fs
1 paper
NM_005634.3
p.H199L
c.596A>T
1 paper
NM_005634.3
p.E184Q
c.550G>C
1 paper
NM_005634.3
p.P204S
c.610C>T
1 paper
NM_005634.3
p.D205E
c.615C>G
1 paper
NM_005634.3
p.T181A
c.541A>G
1 paper
NM_005634.3
p.Y208*
c.624C>A
1 paper
NM_005634.3
p.R209Q
c.626G>A
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."