Varaico: Literature-Extracted Genetic Variants

Gene:SPEM1
Variant:p.E279D

SPEM1

15 papers

Pfam Domains

Spem1aa 10–129UCSCSpermatid maturation protein 1

Gene Aliases

HGNC Name

spermatid maturation 1

HGNC Previous Symbol

C17orf83

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_199339.3
p.E279D
c.837G>C
Surrounding Variants
1 paper
NM_199339.3
p.E279D
c.837G>T
1 paper
NM_199339.3
p.R276W
c.826C>T
1 paper
NM_199339.3
p.P286P
c.858C>G
1 paper
NM_199339.3
p.R265Q
c.794G>A
1 paper
NM_199339.3
p.E295K
c.883G>A
1 paper
NM_199339.3
p.I248M
c.744C>G
1 paper
NM_199339.3
p.P245S
c.733C>T
1 paper
NM_199339.3
p.P239insFs
c.715dupC
1 paper
NM_199339.3
p.A230V
c.689C>T
1 paper
NM_199339.3
p.V227insFs
c.680dupT
1 paper
NM_199339.3
p.G222D
c.665G>A
1 paper
NM_199339.3
p.P212S
c.634C>T
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