Varaico: Literature-Extracted Genetic Variants

Gene:SOX5
Variant:p.R493*

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
6 papers
NM_006940.6
p.R493*
c.1477C>T
Surrounding Variants
1 paper
NM_006940.6
p.L489fs
c.1465_1466fs
3 papers
NM_006940.6
p.L489insFs
c.1465dupC
1 paper
NM_006940.6
p.L489fs
c.1465_1466fs
1 paper
NM_178010.4
p.S100delFs
c.298delT
1 paper
NM_006940.6
p.V476L
c.1426G>T
1 paper
NM_006940.6
p.V476L
c.1426G>C
4 papers
NM_006940.6
p.R471*
c.1411C>T
1 paper
NM_006940.6
p.L470H
c.1409T>A
1 paper
NM_006940.6
p.R464Q
c.1391G>A
1 paper
NM_006940.6
p.R464W
c.1390C>T
1 paper
NM_006940.6
p.I460N
c.1379T>A
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