Varaico: Literature-Extracted Genetic Variants

Gene:SRY
Variant:p.N24_R30delFs

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.N24_R30delFs
c.70_89del20
Surrounding Variants
1 paper
NM_003140.3
p.S31fs
c.91_92fs
1 paper
NM_003140.3
p.S32A
c.94T>G
1 paper
NM_003140.3
p.S32T
c.94T>A
1 paper
NM_003140.3
p.R29_S31del3
c.85_92del9
18 papers
NM_003140.3
p.R30I
c.89G>T
1 paper
NM_003140.3
p.S32F
c.95C>T
3 papers
NM_003140.3
p.R30G
c.88A>G
1 paper
NM_003140.3
p.S33A
c.97T>G
1 paper
NM_003140.3
p.S33P
c.97T>C
5 papers
NM_003140.3
p.S33T
c.97T>A
1 paper
NM_003140.3
p.N24_R29delFs
c.70_86del17
1 paper
NM_003140.3
p.F34S
c.101T>C
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