Varaico: Literature-Extracted Genetic Variants

Gene:SRY
Variant:p.Y17delFs

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.Y17delFs
c.49delA
Surrounding Variants
1 paper
NM_003140.3
p.Y17H
c.49T>C
1 paper
NM_003140.3
p.Y17N
c.49T>A
4 papers
NM_003140.3
p.Y17*
c.51C>G
4 papers
NM_003140.3
p.Y17*
c.51C>A
1 paper
NM_003140.3
p.S18G
c.52A>G
1 paper
NM_003140.3
p.S18R
c.52A>C
32 papers
NM_003140.3
p.S18N
c.53G>A
1 paper
NM_003140.3
p.S18R
c.54T>A
1 paper
NM_003140.3
p.D16Y
c.46G>T
1 paper
NM_003140.3
p.D15E
c.45T>G
1 paper
NM_003140.3
p.D15E
c.45T>A
1 paper
NM_003140.3
p.P19S
c.55C>T
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