Varaico: Literature-Extracted Genetic Variants

Gene:SRY
Variant:p.N13K

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.N13K
c.39C>A
Surrounding Variants
1 paper
NM_003140.3
p.N13K
c.39C>G
2 papers
NM_003140.3
p.N13insFs
c.38_39insA
1 paper
NM_003140.3
p.S14S
c.42C>T
2 papers
NM_003140.3
p.F12I
c.34T>A
1 paper
NM_003140.3
p.D15ins2
c.44_45ins6
1 paper
NM_003140.3
p.D15E
c.45T>G
1 paper
NM_003140.3
p.D15E
c.45T>A
1 paper
NM_003140.3
p.D16Y
c.46G>T
1 paper
NM_003140.3
p.V11I
c.31G>A
1 paper
NM_003140.3
p.Y17H
c.49T>C
1 paper
NM_003140.3
p.Y17N
c.49T>A
1 paper
NM_003140.3
p.S10insFs
c.28_29insA
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