Varaico: Literature-Extracted Genetic Variants

Gene:SRY
Variant:p.M100delFs

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.M100delFs
c.298delT
Surrounding Variants
1 paper
NM_003140.3
p.M100insFs
c.298_299ins4
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
5 papers
NM_003140.3
p.L101H
c.302T>A
2 papers
NM_003140.3
p.W98C
c.294G>T
2 papers
NM_003140.3
p.W98C
c.294G>C
6 papers
NM_003140.3
p.W98*
c.294G>A
1 paper
NM_003140.3
p.W98insFs
c.293_294insC
4 papers
NM_003140.3
p.W98*
c.293G>A
1 paper
NM_003140.3
p.T102I
c.305C>T
1 paper
NM_003140.3
p.T102insFs
c.304_305insA
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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."