Varaico: Literature-Extracted Genetic Variants

Gene:SRY
Variant:p.E112V

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.E112V
c.335A>T
Surrounding Variants
1 paper
NM_003140.3
p.E112D
c.336G>C
4 papers
NM_003140.3
p.E112K
c.334G>A
1 paper
NM_003140.3
p.E112E
c.336G>A
15 papers
NM_003140.3
p.A113T
c.337G>A
3 papers
NM_003140.3
p.A113V
c.338C>T
1 paper
NM_003140.3
p.E112ins0
c.334_336dupGAG
1 paper
NM_003140.3
p.F110S
c.329T>C
5 papers
NM_003140.3
p.Q114R
c.341A>G
6 papers
NM_003140.3
p.F109L
c.327C>G
6 papers
NM_003140.3
p.F109L
c.327C>A
1 paper
NM_003140.3
p.F109delFs
c.326delA
19 papers
NM_003140.3
p.F109S
c.326T>C
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