Varaico: Literature-Extracted Genetic Variants

Gene:TOPAZ1
Variant:p.N628fs

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
Selected Variant
2 papers
NM_001145030.2
p.N628fs
c.1882_1883fs
Surrounding Variants
1 paper
NM_001145030.2
p.G627E
c.1880G>A
1 paper
NM_001145030.2
p.K631insFs
c.1893dupA
2 papers
NM_001145030.2
p.K631delFs
c.1893delA
2 papers
NM_001145030.2
p.A632fs
c.1894_1895fs
1 paper
NM_001145030.2
p.T637M
c.1910C>T
1 paper
NM_001145030.2
p.T613N
c.1838C>A
1 paper
NM_001145030.2
p.I609S
c.1826T>G
1 paper
NM_001145030.2
p.I609delins
c.1825_1826delinsTA
1 paper
NM_001145030.2
p.R661Q
c.1982G>A
1 paper
NM_001145030.2
p.R661L
c.1982G>T
1 paper
NM_001145030.2
p.K591N
c.1773G>C
1 paper
NM_001145030.2
p.K591N
c.1773G>T
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