Varaico: Literature-Extracted Genetic Variants

Gene:SRY
Variant:p.Q117*

SRY

471 papers

RefSeq Summary

This intronless gene encodes a transcription factor that is a member of the high mobility group (HMG)-box family of DNA-binding proteins. This protein is the testis-determining factor (TDF), which ini...

Pfam Domains

HMG_boxaa 60–128UCSCHMG (high mobility group) box

Gene Aliases

HGNC Name

sex determining region Y

HGNC Alias Symbol

TDF

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
3 papers
NM_003140.3
p.Q117*
c.349C>T
Surrounding Variants
1 paper
NM_003140.3
p.Q117P
c.350A>C
7 papers
NM_003140.3
p.L116S
c.347T>C
5 papers
NM_003140.3
p.A118P
c.352G>C
1 paper
NM_003140.3
p.A118_M119insFs
c.354_355insC
1 paper
NM_003140.3
p.M119insFs
c.355_356ins11
1 paper
NM_003140.3
p.M119I
c.357G>T
1 paper
NM_003140.3
p.M119I
c.357G>C
1 paper
NM_003140.3
p.M119I
c.357G>A
5 papers
NM_003140.3
p.Q114R
c.341A>G
1 paper
NM_003140.3
p.H120Y
c.358C>T
2 papers
NM_003140.3
p.H120R
c.359A>G
3 papers
NM_003140.3
p.A113V
c.338C>T
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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."