Varaico: Literature-Extracted Genetic Variants

Gene:TOPAZ1
Variant:p.C43S

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.C43S
c.128G>C
Surrounding Variants
1 paper
NM_001145030.2
p.C43S
c.127T>A
1 paper
NM_001145030.2
p.C43R
c.127T>C
1 paper
NM_001145030.2
p.C43fs
c.127_128fs
1 paper
NM_001145030.2
p.A54D
c.161C>A
1 paper
NM_001145030.2
p.A32V
c.95C>T
1 paper
NM_001145030.2
p.R80H
c.239G>A
1 paper
NM_001145030.2
p.P88Q
c.263C>A
1 paper
NM_001145030.2
p.P91T
c.271C>A
1 paper
NM_001145030.2
p.S94L
c.281C>T
1 paper
NM_001145030.2
p.E118V
c.353A>T
1 paper
NM_001145030.2
p.L134F
c.400C>T
1 paper
NM_001145030.2
p.S145L
c.434C>T
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