Varaico: Literature-Extracted Genetic Variants

Gene:SRY
Variant:p.P63H

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.P63H
c.188C>A
Surrounding Variants
1 paper
NM_003140.3
p.M64L
c.190A>T
2 papers
NM_003140.3
p.M64V
c.190A>G
1 paper
NM_003140.3
p.M64L
c.190A>C
9 papers
NM_003140.3
p.M64R
c.191T>G
5 papers
NM_003140.3
p.M64T
c.191T>C
1 paper
NM_003140.3
p.R62L
c.185G>T
4 papers
NM_003140.3
p.R62P
c.185G>C
16 papers
NM_003140.3
p.M64I
c.192G>T
16 papers
NM_003140.3
p.M64I
c.192G>C
15 papers
NM_003140.3
p.M64I
c.192G>A
23 papers
NM_003140.3
p.R62G
c.184C>G
6 papers
NM_003140.3
p.N65D
c.193A>G
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