Varaico: Literature-Extracted Genetic Variants

Gene:ACRV1
Variant:p.T64I

ACRV1

27 papers

RefSeq Summary

This gene encodes a testis-specific, differentiation antigen, acrosomal vesicle protein 1, that arises within the acrosomal vesicle during spermatogenesis, and is associated with the acrosomal membran...

Pfam Domains

UPAR_LY6aa 186–265UCSCu-PAR/Ly-6 domain

Gene Aliases

HGNC Name

acrosomal vesicle protein 1

HGNC Alias Symbols

SPACA2; SP-10; D11S4365

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001612.6
p.T64I
c.191C>T
Surrounding Variants
1 paper
NM_001612.6
p.E67E
c.201G>A
1 paper
NM_001612.6
p.H78insFs
c.234dupC
1 paper
NM_001612.6
p.T84N
c.251C>A
1 paper
NM_001612.6
p.G96S
c.286G>A
1 paper
NM_001612.6
p.E105D
c.315A>T
1 paper
NM_001612.6
p.E112V
c.335A>T
1 paper
NM_001612.6
p.S115delFs
c.343delA
1 paper
NM_001612.6
p.G126R
c.376G>C
1 paper
NM_001612.6
p.G126R
c.376G>A
1 paper
NM_001612.6
p.P144A
c.430C>G
1 paper
NM_001612.6
p.P144L
c.431C>T
1 paper
NM_001612.6
p.D141_G146del0
c.422_436del15
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."