Varaico: Literature-Extracted Genetic Variants

Gene:SPEM2
Variant:p.A227V

SPEM2

47 papers

Pfam Domains

Spem1aa 1–258UCSCSpermatid maturation protein 1

Gene Aliases

HGNC Name

SPEM family member 2

HGNC Previous Symbol

C17orf74

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_175734.5
p.A227V
c.680C>T
Surrounding Variants
1 paper
NM_175734.5
p.S228T
c.683G>C
1 paper
NM_175734.5
p.W219fs
c.655_656fs
1 paper
NM_175734.5
p.W219delFs
c.656delG
1 paper
NM_175734.5
p.L212P
c.635T>C
1 paper
NM_175734.5
p.G204G
c.612C>T
1 paper
NM_175734.5
p.Y258F
c.773A>T
1 paper
NM_175734.5
p.L191L
c.573G>A
1 paper
NM_175734.5
p.L185_E186del1
c.555_557delGGA
1 paper
NM_175734.5
p.R285Q
c.854G>A
2 papers
NM_175734.5
p.P287R
c.860C>G
1 paper
NM_175734.5
p.T318M
c.953C>T
1 paper
NM_175734.5
p.P325delFs
c.974delC
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