Varaico: Literature-Extracted Genetic Variants

Gene:TOPAZ1

TOPAZ1

81 papers

Pfam Domains

Asp_Glu_race_2aa 1287–1462UCSCPutative aspartate racemase

Gene Aliases

HGNC Name

testis and ovary specific TOPAZ 1

HGNC Previous Symbol

C3orf77

Papers
RefSeq ID
Protein change
DNA change
1–12 of 94 variants
2 papers
NM_001145030.2
p.N628fs
c.1882_1883fs
2 papers
NM_001145030.2
p.K631delFs
c.1893delA
2 papers
NM_001145030.2
p.A632fs
c.1894_1895fs
2 papers
NM_001145030.2
p.P673A
c.2017C>G
2 papers
NM_001145030.2
p.P690S
c.2068C>T
2 papers
NM_001145030.2
p.Q868R
c.2603A>G
2 papers
NM_001145030.2
p.N878S
c.2633A>G
2 papers
NM_001145030.2
p.N940K
c.2820C>A
2 papers
NM_001145030.2
p.N940K
c.2820C>G
1 paper
NM_001145030.2
p.A32V
c.95C>T
1 paper
NM_001145030.2
p.C43S
c.127T>A
1 paper
NM_001145030.2
p.C43R
c.127T>C
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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."