Varaico: Literature-Extracted Genetic Variants

Gene:TOPAZ1
Variant:p.E118V

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.E118V
c.353A>T
Surrounding Variants
1 paper
NM_001145030.2
p.L134F
c.400C>T
1 paper
NM_001145030.2
p.S145L
c.434C>T
1 paper
NM_001145030.2
p.I163V
c.487A>G
1 paper
NM_001145030.2
p.V196I
c.586G>A
1 paper
NM_001145030.2
p.Q199*
c.595C>T
1 paper
NM_001145030.2
p.S94L
c.281C>T
1 paper
NM_001145030.2
p.P91T
c.271C>A
1 paper
NM_001145030.2
p.P88Q
c.263C>A
1 paper
NM_001145030.2
p.R80H
c.239G>A
1 paper
NM_001145030.2
p.L308F
c.924G>C
1 paper
NM_001145030.2
p.L308F
c.924G>T
1 paper
NM_001145030.2
p.N317delFs
c.950delA
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