Varaico: Literature-Extracted Genetic Variants

Gene:SOX5
Variant:p.H616Y

SOX5

153 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 556–624UCSCHMG (high mobility group) box
HMG_boxaa 556–624UCSCHMG (high mobility group) box

Gene Aliases

HGNC Name

SRY-box transcription factor 5

HGNC Alias Symbols

L-SOX5; MGC35153

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_006940.6
p.H616Y
c.1846C>T
Surrounding Variants
1 paper
NM_006940.6
p.H616fs
c.1846_1847fs
1 paper
NM_006940.6
p.H616fs
c.1846_1847fs
2 papers
NM_006940.6
p.H616_L617Fs
c.1847_1851delinsTFs
1 paper
NM_006940.6
p.Y620F
c.1859A>T
1 paper
NM_152989.5
p.R598H
c.1793G>A
1 paper
NM_178010.4
p.P235S
c.703C>T
2 papers
NM_006940.6
p.R611G
c.1831C>G
1 paper
NM_006940.6
p.A610insFs
c.1828_1829ins4
4 papers
NM_006940.6
p.Y623C
c.1868A>G
2 papers
NM_006940.6
p.E607*
c.1819G>T
2 papers
NM_006940.6
p.Y605C
c.1814A>G
1 paper
NM_006940.6
p.Y605S
c.1814A>C
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."