Varaico: Literature-Extracted Genetic Variants

Gene:SRY
Variant:p.L204fs

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.L204fs
c.610_611fs
Surrounding Variants
1 paper
NM_003140.3
p.L204L
c.610C>T
1 paper
NM_003140.3
p.K203N
c.609G>T
1 paper
NM_003140.3
p.K203N
c.609G>C
1 paper
NM_003140.3
p.*205del1
c.613_615delCTA
2 papers
NM_003140.3
p.K203R
c.608A>G
1 paper
NM_003140.3
p.K203fs
c.607_608fs
1 paper
NM_003140.3
p.T202P
c.604A>C
1 paper
NM_003140.3
p.R197_W201delFs
c.590_602del13
1 paper
NM_003140.3
p.W201L
c.602G>T
1 paper
NM_003140.3
p.H200P
c.599A>C
1 paper
NM_003140.3
p.P192_Y198insFs
c.576_592dup17
1 paper
NM_003140.3
p.Y198D
c.592T>G
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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."