Varaico: Literature-Extracted Genetic Variants

Gene:SRY

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
1–12 of 427 variants
32 papers
NM_003140.3
p.S18N
c.53G>A
31 papers
NM_003140.3
p.R133W
c.397C>T
23 papers
NM_003140.3
p.R62G
c.184C>G
20 papers
NM_003140.3
p.Q2*
c.4C>T
20 papers
NM_003140.3
p.V60L
c.178G>T
20 papers
NM_003140.3
p.V60L
c.178G>C
19 papers
NM_003140.3
p.I90M
c.270C>G
19 papers
NM_003140.3
p.F109S
c.326T>C
18 papers
NM_003140.3
p.R30I
c.89G>T
18 papers
NM_003140.3
p.N65H
c.193A>C
18 papers
NM_003140.3
p.G95R
c.283G>C
18 papers
NM_003140.3
p.G95R
c.283G>A
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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."