Varaico: Literature-Extracted Genetic Variants

Gene:SRY
Variant:p.E103insFs

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.E103insFs
c.307_308insG
Surrounding Variants
1 paper
NM_003140.3
p.T102I
c.305C>T
1 paper
NM_003140.3
p.T102insFs
c.304_305insA
2 papers
NM_003140.3
p.A104D
c.311C>A
3 papers
NM_003140.3
p.E105K
c.313G>A
5 papers
NM_003140.3
p.L101H
c.302T>A
5 papers
NM_003140.3
p.L101V
c.301C>G
2 papers
NM_003140.3
p.L101I
c.301C>A
1 paper
NM_003140.3
p.S91_M100del10
c.271_299del30
1 paper
NM_003140.3
p.E105D
c.315A>T
2 papers
NM_003140.3
p.K106E
c.316A>G
1 paper
NM_003140.3
p.M100delFs
c.298delT
8 papers
NM_003140.3
p.K106I
c.317A>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."