Varaico: Literature-Extracted Genetic Variants

Gene:SRY
Variant:p.L9*

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.L9*
c.26T>G
Surrounding Variants
1 paper
NM_003140.3
p.L9*
c.26T>A
1 paper
NM_003140.3
p.S10insFs
c.28_29insA
1 paper
NM_003140.3
p.S10N
c.29G>A
1 paper
NM_003140.3
p.V11I
c.31G>A
1 paper
NM_003140.3
p.A7V
c.20C>T
1 paper
NM_003140.3
p.A7S
c.19G>T
1 paper
NM_003140.3
p.A7T
c.19G>A
2 papers
NM_003140.3
p.F12I
c.34T>A
1 paper
NM_003140.3
p.S6Y
c.17C>A
1 paper
NM_003140.3
p.A5D
c.14C>A
1 paper
NM_003140.3
p.N13K
c.39C>G
2 papers
NM_003140.3
p.N13insFs
c.38_39insA
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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."