Varaico: Literature-Extracted Genetic Variants

Gene:SRY
Variant:p.L28F

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.L28F
c.82C>T
Surrounding Variants
1 paper
NM_003140.3
p.L28_R29insA
c.82_86ins3
1 paper
NM_003140.3
p.L28H
c.83T>A
1 paper
NM_003140.3
p.P19_I25del0
c.55_75del21
1 paper
NM_003140.3
p.N24_R29delFs
c.70_86del17
1 paper
NM_003140.3
p.P26L
c.77C>T
1 paper
NM_003140.3
p.P26R
c.77C>G
1 paper
NM_003140.3
p.P26S
c.76C>T
1 paper
NM_003140.3
p.P26T
c.76C>A
3 papers
NM_003140.3
p.R30G
c.88A>G
18 papers
NM_003140.3
p.R30I
c.89G>T
1 paper
NM_003140.3
p.I25N
c.74T>A
1 paper
NM_003140.3
p.S31fs
c.91_92fs
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