Varaico: Literature-Extracted Genetic Variants

Gene:SPANXC
Variant:p.L42I

SPANXC

16 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 C

HGNC Alias Symbols

CTp11; CT11.3

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_022661.4
p.L42I
c.124C>A
Surrounding Variants
1 paper
NM_022661.4
p.S48*
c.143C>A
1 paper
NM_022661.4
p.P35S
c.103C>T
1 paper
NM_022661.4
p.Y55N
c.163T>A
1 paper
NM_022661.4
p.R56K
c.167G>A
1 paper
NM_022661.4
p.H71H
c.213C>T
1 paper
NM_022661.4
p.R73*
c.217C>T
1 paper
NM_022661.4
p.E74K
c.220G>A
1 paper
NM_022661.4
p.L80V
c.238C>G
1 paper
NM_022661.4
p.E83G
c.248A>G
1 paper
NM_022661.4
p.E86K
c.256G>A
1 paper
NM_022661.4
p.E89K
c.265G>A
1 paper
NM_022661.4
p.I94T
c.281T>C
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