Varaico: Literature-Extracted Genetic Variants

Gene:SOX3
Variant:p.F51L

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.F51L
c.153C>G
Surrounding Variants
1 paper
NM_005634.3
p.F51L
c.153C>A
1 paper
NM_005634.3
p.L50_F51delFs
c.150_153del4
1 paper
NM_005634.3
p.F51L
c.151T>C
8 papers
NM_005634.3
p.V53L
c.157G>T
7 papers
NM_005634.3
p.V53L
c.157G>C
1 paper
NM_005634.3
p.A55P
c.163G>C
1 paper
NM_005634.3
p.A55T
c.163G>A
1 paper
NM_005634.3
p.P44R
c.131C>G
1 paper
NM_005634.3
p.A60_P61insC
c.178_182ins3
1 paper
NM_005634.3
p.A60T
c.178G>A
5 papers
NM_005634.3
p.A43T
c.127G>A
1 paper
NM_005634.3
p.R38_S42delFs
c.112_124del13
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