Varaico: Literature-Extracted Genetic Variants

Gene:SRY
Variant:p.P108A

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.P108A
c.322C>G
Surrounding Variants
4 papers
NM_003140.3
p.P108S
c.322C>T
1 paper
NM_003140.3
p.W107C
c.321G>T
1 paper
NM_003140.3
p.W107C
c.321G>C
3 papers
NM_003140.3
p.W107*
c.321G>A
2 papers
NM_003140.3
p.P108L
c.323C>T
3 papers
NM_003140.3
p.P108R
c.323C>G
3 papers
NM_003140.3
p.W107*
c.320G>A
1 paper
NM_003140.3
p.W107insFs
c.319_320insA
6 papers
NM_003140.3
p.F109L
c.325T>C
1 paper
NM_003140.3
p.F109fs
c.325_326fs
19 papers
NM_003140.3
p.F109S
c.326T>C
1 paper
NM_003140.3
p.K106K
c.318A>G
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