Varaico: Literature-Extracted Genetic Variants

Gene:SOX3
Variant:p.P39L

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.P39L
c.116C>T
Surrounding Variants
1 paper
NM_005634.3
p.P39fs
c.115_116fs
1 paper
NM_005634.3
p.H37delFs
c.110delT
1 paper
NM_005634.3
p.R38_S42delFs
c.112_124del13
1 paper
NM_005634.3
p.A36P
c.106G>C
5 papers
NM_005634.3
p.A43T
c.127G>A
1 paper
NM_005634.3
p.P44R
c.131C>G
1 paper
NM_005634.3
p.D33N
c.97G>A
1 paper
NM_005634.3
p.I24_F30delFs
c.70_89del20
2 papers
NM_005634.3
p.P29S
c.85C>T
1 paper
NM_005634.3
p.L28insFs
c.83_84insA
1 paper
NM_005634.3
p.F51L
c.151T>C
1 paper
NM_005634.3
p.F51L
c.153C>G
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