Varaico: Literature-Extracted Genetic Variants

Gene:SRY
Variant:p.L163_K170delFs

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.L163_K170delFs
c.489_510del22
Surrounding Variants
1 paper
NM_003140.3
p.A171_T172insCTG
c.511_515ins9
1 paper
NM_003140.3
p.A171T
c.511G>A
1 paper
NM_003140.3
p.T172R
c.515C>G
2 papers
NM_003140.3
p.K170E
c.508A>G
1 paper
NM_003140.3
p.T169M
c.506C>T
1 paper
NM_003140.3
p.C168*
c.504T>A
1 paper
NM_003140.3
p.S174*
c.521C>A
1 paper
NM_003140.3
p.D167_S174delFs
c.499_520del22
1 paper
NM_003140.3
p.S174delFs
c.520_521delGA
1 paper
NM_003140.3
p.M176V
c.526A>G
1 paper
NM_003140.3
p.D166G
c.497A>G
1 paper
NM_003140.3
p.E177*
c.529G>T
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