Varaico: Literature-Extracted Genetic Variants

Gene:SRY
Variant:p.R133W

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
31 papers
NM_003140.3
p.R133W
c.397C>T
Surrounding Variants
6 papers
NM_003140.3
p.R133G
c.397C>G
1 paper
NM_003140.3
p.R132C
c.394C>T
4 papers
NM_003140.3
p.R132G
c.394C>G
1 paper
NM_003140.3
p.P131L
c.392C>T
8 papers
NM_003140.3
p.P131R
c.392C>G
3 papers
NM_003140.3
p.P131H
c.392C>A
2 papers
NM_003140.3
p.P131S
c.391C>T
1 paper
NM_003140.3
p.P131T
c.391C>A
6 papers
NM_003140.3
p.R130P
c.389G>C
2 papers
NM_003140.3
p.R130*
c.388C>T
1 paper
NM_003140.3
p.K136Q
c.406A>C
4 papers
NM_003140.3
p.Y129*
c.387T>G
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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."