Varaico: Literature-Extracted Genetic Variants

Gene:SOX3
Variant:p.E81G

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.E81G
c.242A>G
Surrounding Variants
1 paper
NM_005634.3
p.A75_L80insFs
c.224_240dup17
1 paper
NM_005634.3
p.P74_L79delFs
c.221_236del16
1 paper
NM_005634.3
p.E83_L84insA
c.247_251ins3
1 paper
NM_005634.3
p.L84F
c.250C>T
1 paper
NM_005634.3
p.P87A
c.259C>G
1 paper
NM_005634.3
p.V88A
c.263T>C
2 papers
NM_005634.3
p.P74L
c.221C>T
2 papers
NM_005634.3
p.A73A
c.219C>T
2 papers
NM_005634.3
p.G96fs
c.286_287fs
1 paper
NM_005634.3
p.G96delFs
c.287delC
1 paper
NM_005634.3
p.A65V
c.194C>T
1 paper
NM_005634.3
p.T97N
c.290C>A
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