Varaico: Literature-Extracted Genetic Variants

Gene:SPANXD
Variant:p.L42I

SPANXD

23 papers

RefSeq Summary

Temporally regulated transcription and translation of several testis-specific genes is required to initiate the series of molecular and morphological changes in the male germ cell lineage necessary fo...

Pfam Domains

SPAN-Xaa 1–94UCSCSperm protein associated with nucleus, mapped to X chromosome

Gene Aliases

HGNC Name

SPANX family member D

HGNC Previous Symbol

SPANXE

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_032417.4
p.L42I
c.124C>A
Surrounding Variants
1 paper
NM_032417.4
p.S48*
c.143C>A
1 paper
NM_032417.4
p.P35L
c.104C>T
1 paper
NM_032417.4
p.S30G
c.88A>G
1 paper
NM_032417.4
p.R54H
c.161G>A
2 papers
NM_032417.4
p.F59V
c.175T>G
1 paper
NM_032417.4
p.F59L
c.175T>C
2 papers
NM_032417.4
p.F59L
c.177T>G
1 paper
NM_032417.4
p.F59L
c.177T>A
1 paper
NM_032417.4
p.F59delins
c.175_177delinsGTG
1 paper
NM_032417.4
p.V68L
c.202G>T
3 papers
NM_032417.4
p.V68L
c.202G>C
1 paper
NM_032417.4
p.A72T
c.214G>A
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