Varaico: Literature-Extracted Genetic Variants

Gene:SRY
Variant:p.M78T

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
6 papers
NM_003140.3
p.M78T
c.233T>C
Surrounding Variants
1 paper
NM_003140.3
p.K77fs
c.229_230fs
1 paper
NM_003140.3
p.K77insFs
c.230_231insA
1 paper
NM_003140.3
p.A79V
c.236C>T
1 paper
NM_003140.3
p.W70_M78delFs
c.208_232del25
1 paper
NM_003140.3
p.K77T
c.230A>C
1 paper
NM_003140.3
p.I68_R76delFs
c.204_228del25
1 paper
NM_003140.3
p.R76R
c.228C>T
1 paper
NM_003140.3
p.L80V
c.238C>G
2 papers
NM_003140.3
p.L80I
c.238C>A
8 papers
NM_003140.3
p.R76L
c.227G>T
16 papers
NM_003140.3
p.R76P
c.227G>C
3 papers
NM_003140.3
p.R76C
c.226C>T
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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."