Varaico: Literature-Extracted Genetic Variants

Gene:SRY
Variant:p.Y127C

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
15 papers
NM_003140.3
p.Y127C
c.380A>G
Surrounding Variants
7 papers
NM_003140.3
p.Y127F
c.380A>T
2 papers
NM_003140.3
p.Y127*
c.381T>G
6 papers
NM_003140.3
p.Y127H
c.379T>C
2 papers
NM_003140.3
p.Y127*
c.381T>A
1 paper
NM_003140.3
p.Y127N
c.379T>A
1 paper
NM_003140.3
p.K128*
c.382A>T
1 paper
NM_003140.3
p.K128E
c.382A>G
7 papers
NM_003140.3
p.K128R
c.383A>G
1 paper
NM_003140.3
p.K128N
c.384G>T
1 paper
NM_003140.3
p.K128N
c.384G>C
2 papers
NM_003140.3
p.N126D
c.376A>G
1 paper
NM_003140.3
p.Y129D
c.385T>G
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