Varaico: Literature-Extracted Genetic Variants

Gene:SRY
Variant:p.N41I

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.N41I
c.122A>T
Surrounding Variants
1 paper
NM_003140.3
p.S42T
c.124T>A
1 paper
NM_003140.3
p.S42fs
c.124_125fs
1 paper
NM_003140.3
p.S42F
c.125C>T
1 paper
NM_003140.3
p.S42insFs
c.124dupT
1 paper
NM_003140.3
p.E38_S42delFs
c.112_124del13
1 paper
NM_003140.3
p.C40S
c.118T>A
2 papers
NM_003140.3
p.K43*
c.127A>T
2 papers
NM_003140.3
p.K43E
c.127A>G
2 papers
NM_003140.3
p.K43R
c.128A>G
1 paper
NM_003140.3
p.C36_K43insFs
c.107_128dup22
13 papers
NM_003140.3
p.E38V
c.113A>T
3 papers
NM_003140.3
p.E38G
c.113A>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."