Varaico: Literature-Extracted Genetic Variants

Gene:SOX13
Variant:p.N105del1

SOX13

67 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 cell fate. The encoded prote...

Pfam Domains

HMG_boxaa 424–492UCSCHMG (high mobility group) box

Gene Aliases

HGNC Name

SRY-box transcription factor 13

HGNC Alias Symbols

Sox-13; ICA12; MGC117216

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_005686.3
p.N105del1
c.313_315delAAC
Surrounding Variants
1 paper
NM_005686.3
p.V111Splc
c.332-1G>C
1 paper
NM_005686.3
p.L128P
c.383T>C
1 paper
NM_005686.3
p.R130S
c.390G>C
1 paper
NM_005686.3
p.R130S
c.390G>T
1 paper
NM_005686.3
p.G140Splc
c.418+1G>C
1 paper
NM_005686.3
p.G67W
c.199G>T
1 paper
NM_005686.3
p.Q62R
c.185A>G
1 paper
NM_005686.3
p.G39D
c.116G>A
1 paper
NM_005686.3
p.P37H
c.110C>A
1 paper
NM_005686.3
p.C33C
c.99C>T
1 paper
NM_005686.3
p.L11M
c.31C>A
1 paper
NM_005686.3
p.Q10fs
c.28_29fs
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."