Varaico: Literature-Extracted Genetic Variants

Gene:SRY
Variant:p.A189S

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
1 paper
NM_003140.3
p.A189S
c.565G>T
Surrounding Variants
1 paper
NM_003140.3
p.A189V
c.566C>T
1 paper
NM_003140.3
p.A188del1
c.562_564delTGC
1 paper
NM_003140.3
p.S190N
c.569G>A
2 papers
NM_003140.3
p.N187N
c.561C>T
1 paper
NM_003140.3
p.N187D
c.559A>G
1 paper
NM_003140.3
p.P185_N187Fs
c.554_559delinsTGTGFs
1 paper
NM_003140.3
p.S191L
c.572C>T
1 paper
NM_003140.3
p.I186delFs
c.556delT
1 paper
NM_003140.3
p.S191S
c.573A>C
1 paper
NM_003140.3
p.P192T
c.574C>A
1 paper
NM_003140.3
p.P185A
c.553C>G
1 paper
NM_003140.3
p.Q193R
c.578A>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."