Varaico: Literature-Extracted Genetic Variants

Gene:SRY
Variant:p.L94V

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.L94V
c.280C>G
Surrounding Variants
5 papers
NM_003140.3
p.L94R
c.281T>G
12 papers
NM_003140.3
p.L94P
c.281T>C
1 paper
NM_003140.3
p.L94Q
c.281T>A
1 paper
NM_003140.3
p.L94delFs
c.280delG
1 paper
NM_003140.3
p.Q93H
c.279G>T
18 papers
NM_003140.3
p.G95R
c.283G>C
18 papers
NM_003140.3
p.G95R
c.283G>A
3 papers
NM_003140.3
p.Q93*
c.277C>T
10 papers
NM_003140.3
p.G95E
c.284G>A
6 papers
NM_003140.3
p.K92M
c.275A>T
1 paper
NM_003140.3
p.G95insFs
c.284_285insG
3 papers
NM_003140.3
p.K92*
c.274A>T
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