Varaico: Literature-Extracted Genetic Variants

Gene:SRY
Variant:p.R165M

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.R165M
c.494G>T
Surrounding Variants
1 paper
NM_003140.3
p.Y164F
c.491A>T
1 paper
NM_003140.3
p.D166G
c.497A>G
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
1 paper
NM_003140.3
p.L163F
c.489G>C
7 papers
NM_003140.3
p.L163*
c.488T>A
1 paper
NM_003140.3
p.R162T
c.485G>C
1 paper
NM_003140.3
p.C168*
c.504T>A
1 paper
NM_003140.3
p.T169M
c.506C>T
1 paper
NM_003140.3
p.D160delFs
c.479delT
2 papers
NM_003140.3
p.K170E
c.508A>G
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