Varaico: Literature-Extracted Genetic Variants

Gene:SRY
Variant:p.G54fs

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.G54fs
c.160_161fs
Surrounding Variants
1 paper
NM_003140.3
p.G54fs
c.160_161fs
1 paper
NM_003140.3
p.G54delFs
c.161delC
5 papers
NM_003140.3
p.K53I
c.158A>T
1 paper
NM_003140.3
p.V56I
c.166G>A
1 paper
NM_003140.3
p.S52G
c.154A>G
1 paper
NM_003140.3
p.V56A
c.167T>C
1 paper
NM_003140.3
p.V56D
c.167T>A
2 papers
NM_003140.3
p.E50delFs
c.150delT
2 papers
NM_003140.3
p.N51S
c.152A>G
1 paper
NM_003140.3
p.Q57E
c.169C>G
1 paper
NM_003140.3
p.Q57_D58insL
c.169_173ins3
5 papers
NM_003140.3
p.Q57R
c.170A>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."