Varaico: Literature-Extracted Genetic Variants

Gene:SRY
Variant:p.S91R

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.S91R
c.273C>A
Surrounding Variants
1 paper
NM_003140.3
p.S91R
c.273C>G
3 papers
NM_003140.3
p.K92*
c.274A>T
6 papers
NM_003140.3
p.K92M
c.275A>T
2 papers
NM_003140.3
p.S91C
c.271A>T
9 papers
NM_003140.3
p.S91G
c.271A>G
1 paper
NM_003140.3
p.S91R
c.271A>C
19 papers
NM_003140.3
p.I90M
c.270C>G
3 papers
NM_003140.3
p.Q93*
c.277C>T
1 paper
NM_003140.3
p.I90V
c.268A>G
1 paper
NM_003140.3
p.I90L
c.268A>C
1 paper
NM_003140.3
p.Q93H
c.279G>T
1 paper
NM_003140.3
p.L94V
c.280C>G
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