Varaico: Literature-Extracted Genetic Variants

Gene:SRY
Variant:p.Q22*

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.Q22*
c.64C>T
Surrounding Variants
1 paper
NM_003140.3
p.V21delFs
c.62delA
1 paper
NM_003140.3
p.Q22H
c.66A>T
1 paper
NM_003140.3
p.E23V
c.68A>T
1 paper
NM_003140.3
p.A20D
c.59C>A
1 paper
NM_003140.3
p.N24D
c.70A>G
1 paper
NM_003140.3
p.N24I
c.71A>T
1 paper
NM_003140.3
p.N24T
c.71A>C
1 paper
NM_003140.3
p.N24K
c.72T>G
1 paper
NM_003140.3
p.N24K
c.72T>A
5 papers
NM_003140.3
p.N24delFs
c.70delT
1 paper
NM_003140.3
p.P19Q
c.56C>A
1 paper
NM_003140.3
p.P19S
c.55C>T
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