Varaico: Literature-Extracted Genetic Variants

Gene:SRY
Variant:p.I68F

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.I68F
c.202A>T
Surrounding Variants
1 paper
NM_003140.3
p.I68V
c.202A>G
8 papers
NM_003140.3
p.I68T
c.203T>C
6 papers
NM_003140.3
p.F67L
c.201C>G
5 papers
NM_003140.3
p.F67L
c.201C>A
1 paper
NM_003140.3
p.I68I
c.204C>T
12 papers
NM_003140.3
p.F67V
c.199T>G
5 papers
NM_003140.3
p.F67L
c.199T>C
1 paper
NM_003140.3
p.V69V
c.207G>C
2 papers
NM_003140.3
p.A66P
c.196G>C
2 papers
NM_003140.3
p.A66T
c.196G>A
7 papers
NM_003140.3
p.W70L
c.209G>T
3 papers
NM_003140.3
p.W70*
c.209G>A
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