Varaico: Literature-Extracted Genetic Variants

Gene:SRY
Variant:p.N24K

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.N24K
c.72T>G
Surrounding Variants
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.N24I
c.71A>T
1 paper
NM_003140.3
p.N24T
c.71A>C
1 paper
NM_003140.3
p.N24delFs
c.72delA
1 paper
NM_003140.3
p.I25N
c.74T>A
1 paper
NM_003140.3
p.N24D
c.70A>G
1 paper
NM_003140.3
p.P26S
c.76C>T
1 paper
NM_003140.3
p.P26T
c.76C>A
1 paper
NM_003140.3
p.E23V
c.68A>T
1 paper
NM_003140.3
p.P26L
c.77C>T
1 paper
NM_003140.3
p.P26R
c.77C>G
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