Varaico: Literature-Extracted Genetic Variants

Gene:SOX11
Variant:p.L331L

SOX11

184 papers

RefSeq Summary

This intronless 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. Th...

Pfam Domains

HMG_boxaa 49–117UCSCHMG (high mobility group) box

Gene Aliases

HGNC Name

SRY-box transcription factor 11

HGNC Previous Names

SRY (sex determining region Y)-box 11; SRY-box 11

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_003108.4
p.L331L
c.991C>T
Surrounding Variants
1 paper
NM_003108.4
p.A330V
c.989C>T
1 paper
NM_003108.4
p.S332P
c.994T>C
1 paper
NM_003108.4
p.S332L
c.995C>T
1 paper
NM_003108.4
p.P329H
c.986C>A
1 paper
NM_003108.4
p.P333P
c.999C>T
1 paper
NM_003108.4
p.A334P
c.1000G>C
2 papers
NM_003108.4
p.S338L
c.1013C>T
1 paper
NM_003108.4
p.H322fs
c.964_965fs
1 paper
NM_003108.4
p.H322_Q328delFs
c.965_983del19
1 paper
NM_003108.4
p.S340F
c.1019C>T
1 paper
NM_003108.4
p.I318N
c.953T>A
2 papers
NM_003108.4
p.S344P
c.1030T>C
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