Varaico: Literature-Extracted Genetic Variants

Gene:SRY
Variant:p.R86*

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
3 papers
NM_003140.3
p.R86*
c.256C>T
Surrounding Variants
1 paper
NM_003140.3
p.R86fs
c.256_257fs
1 paper
NM_003140.3
p.R86Q
c.257G>A
1 paper
NM_003140.3
p.M85delFs
c.253_254delAT
4 papers
NM_003140.3
p.M85T
c.254T>C
4 papers
NM_003140.3
p.N87Y
c.259A>T
2 papers
NM_003140.3
p.M85V
c.253A>G
1 paper
NM_003140.3
p.R84I
c.251G>T
2 papers
NM_003140.3
p.R84T
c.251G>C
1 paper
NM_003140.3
p.R84K
c.251G>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
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