Varaico: Literature-Extracted Genetic Variants

Gene:SOX5
Variant:p.K595E

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
3 papers
NM_006940.6
p.K595E
c.1783A>G
Surrounding Variants
2 papers
NM_006940.6
p.W594*
c.1782G>A
2 papers
NM_006940.6
p.W594*
c.1781G>A
1 paper
NM_006940.6
p.A596S
c.1786G>T
4 papers
NM_006940.6
p.A596P
c.1786G>C
1 paper
NM_006940.6
p.R593C
c.1777C>T
2 papers
NM_006940.6
p.M597V
c.1789A>G
1 paper
NM_006940.6
p.A596insFs
c.1788dupT
1 paper
NM_006940.6
p.M597fs
c.1789_1790fs
2 papers
NM_006940.6
p.G591R
c.1771G>C
3 papers
NM_006940.6
p.G591Splc
c.1772-1G>A
1 paper
NM_006940.6
p.L600V
c.1798C>G
2 papers
NM_006940.6
p.Y605C
c.1814A>G
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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."