Varaico: Literature-Extracted Genetic Variants

Gene:SRY
Variant:p.P139A

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.P139A
c.415C>G
Surrounding Variants
1 paper
NM_003140.3
p.P139S
c.415C>T
1 paper
NM_003140.3
p.P139L
c.416C>T
1 paper
NM_003140.3
p.L138P
c.413T>C
1 paper
NM_003140.3
p.K140_N141ins4
c.418_422ins12
2 papers
NM_003140.3
p.K136M
c.407A>T
1 paper
NM_003140.3
p.K136R
c.407A>G
1 paper
NM_003140.3
p.K136T
c.407A>C
1 paper
NM_003140.3
p.K136Q
c.406A>C
6 papers
NM_003140.3
p.S143C
c.427A>T
2 papers
NM_003140.3
p.S143G
c.427A>G
1 paper
NM_003140.3
p.S143R
c.427A>C
31 papers
NM_003140.3
p.R133W
c.397C>T
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."