Varaico: Literature-Extracted Genetic Variants

Gene:SOX13
Variant:p.F232V

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.F232V
c.694T>G
Surrounding Variants
1 paper
NM_005686.3
p.P234A
c.700C>G
1 paper
NM_005686.3
p.S235I
c.704G>T
1 paper
NM_005686.3
p.H236N
c.706C>A
1 paper
NM_005686.3
p.P240S
c.718C>T
1 paper
NM_005686.3
p.H210R
c.629A>G
1 paper
NM_005686.3
p.Q203R
c.608A>G
1 paper
NM_005686.3
p.Q201R
c.602A>G
1 paper
NM_005686.3
p.R192Q
c.575G>A
1 paper
NM_005686.3
p.E182Q
c.544G>C
1 paper
NM_005686.3
p.M179_L180insFs
c.537_538ins5
1 paper
NM_005686.3
p.M179fs
c.535_536fs
1 paper
NM_005686.3
p.Q173E
c.517C>G
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."