Varaico: Literature-Extracted Genetic Variants

Gene:SRY
Variant:p.E122fs

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.E122fs
c.364_365fs
Surrounding Variants
1 paper
NM_003140.3
p.K123E
c.367A>G
1 paper
NM_003140.3
p.E122A
c.365A>C
1 paper
NM_003140.3
p.E122*
c.364G>T
1 paper
NM_003140.3
p.E122K
c.364G>A
1 paper
NM_003140.3
p.E122fs
c.364_365fs
2 papers
NM_003140.3
p.R121K
c.362G>A
1 paper
NM_003140.3
p.P125S
c.373C>T
1 paper
NM_003140.3
p.P125T
c.373C>A
2 papers
NM_003140.3
p.H120R
c.359A>G
12 papers
NM_003140.3
p.P125L
c.374C>T
1 paper
NM_003140.3
p.H120Y
c.358C>T
1 paper
NM_003140.3
p.M119I
c.357G>T
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