Varaico: Literature-Extracted Genetic Variants

Gene:SPATA46
Variant:p.K220E

SPATA46

25 papers

Pfam Domains

Spt46aa 1–225UCSCSpermatogenesis-associated protein 46

Gene Aliases

HGNC Name

spermatogenesis associated 46

HGNC Previous Symbol

C1orf111

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_182581.4
p.K220E
c.658A>G
Surrounding Variants
2 papers
NM_182581.4
p.R217H
c.650G>A
1 paper
NM_182581.4
p.Y216C
c.647A>G
1 paper
NM_182581.4
p.G209G
c.627C>T
1 paper
NM_182581.4
p.G238S
c.712G>A
1 paper
NM_182581.4
p.R251G
c.751A>G
1 paper
NM_182581.4
p.Q252*
c.754C>T
1 paper
NM_182581.4
p.G254C
c.760G>T
1 paper
NM_182581.4
p.C185C
c.555C>T
1 paper
NM_182581.4
p.G255fs
c.763_764fs
1 paper
NM_182581.4
p.G255S
c.763G>A
1 paper
NM_182581.4
p.K184R
c.551A>G
2 papers
NM_182581.4
p.R174R
c.522G>A
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