Varaico: Literature-Extracted Genetic Variants

Gene:ATOSB
Variant:p.R315H

ATOSB

34 papers

Pfam Domains

DUF4210aa 348–406UCSCDomain of unknown function (DUF4210)
Chromosome_segaa 480–537UCSCChromosome segregation during meiosis

Gene Aliases

HGNC Name

atos homolog B

HGNC Previous Symbols

KIAA1539; FAM214B

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_025182.4
p.R315H
c.944G>A
Surrounding Variants
1 paper
NM_025182.4
p.S335fs
c.1003_1004fs
1 paper
NM_025182.4
p.R346H
c.1037G>A
1 paper
NM_025182.4
p.H366Q
c.1098C>G
1 paper
NM_025182.4
p.H366Q
c.1098C>A
1 paper
NM_025182.4
p.C381F
c.1142G>T
1 paper
NM_025182.4
p.C381Y
c.1142G>A
1 paper
NM_025182.4
p.T273A
c.817A>G
1 paper
NM_025182.4
p.R263G
c.787C>G
1 paper
NM_025182.4
p.L244L
c.732G>A
1 paper
NM_025182.4
p.S216F
c.647C>T
1 paper
NM_025182.4
p.E215A
c.644A>C
2 papers
NM_025182.4
p.V205G
c.614T>G
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