Varaico: Literature-Extracted Genetic Variants

Gene:SRY
Variant:p.S88*

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
2 papers
NM_003140.3
p.S88*
c.263C>G
Surrounding Variants
2 papers
NM_003140.3
p.S88*
c.263C>A
1 paper
NM_003140.3
p.S88insFs
c.262_263insG
1 paper
NM_003140.3
p.S88A
c.262T>G
1 paper
NM_003140.3
p.S88P
c.262T>C
1 paper
NM_003140.3
p.E89insFs
c.265_266insA
9 papers
NM_003140.3
p.E89K
c.265G>A
1 paper
NM_003140.3
p.E89fs
c.265_266fs
3 papers
NM_003140.3
p.E89V
c.266A>T
4 papers
NM_003140.3
p.E89A
c.266A>C
4 papers
NM_003140.3
p.N87Y
c.259A>T
1 paper
NM_003140.3
p.I90V
c.268A>G
1 paper
NM_003140.3
p.I90L
c.268A>C
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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."