Varaico: Literature-Extracted Genetic Variants

Gene:SRY
Variant:p.C168*

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.C168*
c.504T>A
Surrounding Variants
1 paper
NM_003140.3
p.T169M
c.506C>T
2 papers
NM_003140.3
p.K170E
c.508A>G
1 paper
NM_003140.3
p.A171_T172insCTG
c.511_515ins9
1 paper
NM_003140.3
p.A171T
c.511G>A
1 paper
NM_003140.3
p.D166G
c.497A>G
1 paper
NM_003140.3
p.L163_K170delFs
c.489_510del22
1 paper
NM_003140.3
p.R165M
c.494G>T
1 paper
NM_003140.3
p.T172R
c.515C>G
1 paper
NM_003140.3
p.Y164F
c.491A>T
1 paper
NM_003140.3
p.L163del1
c.487_489delCAA
1 paper
NM_003140.3
p.Y164H
c.490T>C
1 paper
NM_003140.3
p.L163F
c.489G>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."