Varaico: Literature-Extracted Genetic Variants

Gene:SOX3
Variant:p.M1V

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.M1V
c.1A>G
Surrounding Variants
4 papers
NM_005634.3
p.M1T
c.2T>C
1 paper
NM_005634.3
p.M1_R2insFs
c.3_4insA
1 paper
NM_005634.3
p.M1I
c.3G>A
1 paper
NM_005634.3
p.V4L
c.10G>C
1 paper
NM_005634.3
p.R5G
c.13C>G
1 paper
NM_005634.3
p.R5P
c.14G>C
6 papers
NM_005634.3
p.R5Q
c.14G>A
1 paper
NM_005634.3
p.E6*
c.16G>T
1 paper
NM_005634.3
p.E6D
c.18G>C
1 paper
NM_005634.3
p.N7_S8insFs
c.21_22insT
1 paper
NM_005634.3
p.S8insFs
c.22_23insT
1 paper
NM_005634.3
p.S9P
c.25T>C
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