Varaico: Literature-Extracted Genetic Variants

Gene:TOPAZ1
Variant:p.F670L

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
1 paper
NM_001145030.2
p.F670L
c.2010T>G
Surrounding Variants
1 paper
NM_001145030.2
p.F670L
c.2010T>A
1 paper
NM_001145030.2
p.F670L
c.2008T>C
2 papers
NM_001145030.2
p.P673A
c.2017C>G
1 paper
NM_001145030.2
p.I678V
c.2032A>G
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.R683W
c.2047C>T
2 papers
NM_001145030.2
p.P690S
c.2068C>T
1 paper
NM_001145030.2
p.K700T
c.2099A>C
1 paper
NM_001145030.2
p.T637M
c.1910C>T
2 papers
NM_001145030.2
p.A632fs
c.1894_1895fs
1 paper
NM_001145030.2
p.K631insFs
c.1893dupA
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