Varaico: Literature-Extracted Genetic Variants

Gene:SOX13
Variant:p.R321insFs

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.R321insFs
c.961dupC
Surrounding Variants
2 papers
NM_005686.3
p.V319A
c.956T>C
2 papers
NM_005686.3
p.R321fs
c.961_962fs
1 paper
NM_005686.3
p.R321insFs
c.963dupC
1 paper
NM_005686.3
p.P322P
c.966C>T
1 paper
NM_005686.3
p.P323fs
c.967_968fs
1 paper
NM_005686.3
p.P337insFs
c.1009_1010insG
1 paper
NM_005686.3
p.P337fs
c.1009_1010fs
1 paper
NM_005686.3
p.P299L
c.896C>T
1 paper
NM_005686.3
p.A297D
c.890C>A
1 paper
NM_005686.3
p.P277S
c.829C>T
1 paper
NM_005686.3
p.V274A
c.821T>C
1 paper
NM_005686.3
p.Q264*
c.790C>T
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."