Varaico: Literature-Extracted Genetic Variants

Gene:SRY
Variant:p.Q194R

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.Q194R
c.581A>G
Surrounding Variants
1 paper
NM_003140.3
p.Q194Q
c.582A>G
1 paper
NM_003140.3
p.Q193R
c.578A>G
1 paper
NM_003140.3
p.D196G
c.587A>G
1 paper
NM_003140.3
p.P192T
c.574C>A
1 paper
NM_003140.3
p.S191S
c.573A>C
1 paper
NM_003140.3
p.R197P
c.590G>C
1 paper
NM_003140.3
p.S191L
c.572C>T
1 paper
NM_003140.3
p.Y198D
c.592T>G
1 paper
NM_003140.3
p.Y198fs
c.592_593fs
1 paper
NM_003140.3
p.S190N
c.569G>A
1 paper
NM_003140.3
p.P192_Y198insFs
c.576_592dup17
1 paper
NM_003140.3
p.A188del1
c.562_564delTGC
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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."