Varaico: Literature-Extracted Genetic Variants

Gene:TOPAZ1
Variant:p.N940K

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.N940K
c.2820C>G
Surrounding Variants
2 papers
NM_001145030.2
p.N940K
c.2820C>A
1 paper
NM_001145030.2
p.K947*
c.2839A>T
1 paper
NM_001145030.2
p.T964N
c.2891C>A
1 paper
NM_001145030.2
p.G899V
c.2696G>T
1 paper
NM_001145030.2
p.S883L
c.2648C>T
2 papers
NM_001145030.2
p.N878S
c.2633A>G
2 papers
NM_001145030.2
p.Q868R
c.2603A>G
1 paper
NM_001145030.2
p.V861I
c.2581G>A
1 paper
NM_001145030.2
p.D859H
c.2575G>C
1 paper
NM_001145030.2
p.E847K
c.2539G>A
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