Varaico: Literature-Extracted Genetic Variants

Gene:SRY
Variant:p.E177K

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.E177K
c.529G>A
Surrounding Variants
1 paper
NM_003140.3
p.E177*
c.529G>T
1 paper
NM_003140.3
p.M176V
c.526A>G
1 paper
NM_003140.3
p.H178H
c.534C>T
2 papers
NM_003140.3
p.Q179*
c.535C>T
1 paper
NM_003140.3
p.Q179K
c.535C>A
1 paper
NM_003140.3
p.T172_H178del0
c.514_534del21
1 paper
NM_003140.3
p.S174delFs
c.520_521delGA
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.T172R
c.515C>G
1 paper
NM_003140.3
p.G181del1
c.541_543delGCC
1 paper
NM_003140.3
p.L163_K170delFs
c.489_510del22
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."