Varaico: Literature-Extracted Genetic Variants

Gene:SRY
Variant:p.R76C

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
3 papers
NM_003140.3
p.R76C
c.226C>T
Surrounding Variants
7 papers
NM_003140.3
p.R76S
c.226C>A
8 papers
NM_003140.3
p.R76L
c.227G>T
16 papers
NM_003140.3
p.R76P
c.227G>C
5 papers
NM_003140.3
p.R75M
c.224G>T
3 papers
NM_003140.3
p.R75K
c.224G>A
1 paper
NM_003140.3
p.R76R
c.228C>T
1 paper
NM_003140.3
p.R75G
c.223A>G
1 paper
NM_003140.3
p.I68_R76delFs
c.204_228del25
6 papers
NM_003140.3
p.Q74H
c.222G>T
6 papers
NM_003140.3
p.Q74H
c.222G>C
1 paper
NM_003140.3
p.K77T
c.230A>C
1 paper
NM_003140.3
p.K77fs
c.229_230fs
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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."