Varaico: Literature-Extracted Genetic Variants

Gene:SRY
Variant:p.D73G

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.D73G
c.218A>G
Surrounding Variants
3 papers
NM_003140.3
p.Q74*
c.220C>T
6 papers
NM_003140.3
p.Q74H
c.222G>T
6 papers
NM_003140.3
p.Q74H
c.222G>C
4 papers
NM_003140.3
p.R72G
c.214C>G
1 paper
NM_003140.3
p.R75G
c.223A>G
5 papers
NM_003140.3
p.R75M
c.224G>T
3 papers
NM_003140.3
p.R75K
c.224G>A
1 paper
NM_003140.3
p.S71F
c.212C>T
1 paper
NM_003140.3
p.S71Y
c.212C>A
3 papers
NM_003140.3
p.W70*
c.210G>A
3 papers
NM_003140.3
p.R76C
c.226C>T
7 papers
NM_003140.3
p.R76S
c.226C>A
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