Varaico: Literature-Extracted Genetic Variants

Gene:SPATA18
Variant:p.R489S

SPATA18

46 papers

RefSeq Summary

This gene encodes a p53-inducible protein that is able to induce lysosome-like organelles within mitochondria that eliminate oxidized mitochondrial proteins, thereby contributing to mitochondrial qual...

Pfam Domains

MIEAPaa 298–488UCSCMitochondria-eating protein

Gene Aliases

HGNC Name

spermatogenesis associated 18

HGNC Alias Symbol

FLJ32906

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_145263.4
p.R489S
c.1467G>T
Surrounding Variants
1 paper
NM_145263.4
p.R489S
c.1467G>C
1 paper
NM_145263.4
p.T488P
c.1462A>C
1 paper
NM_145263.4
p.F493_W494Splc
c.1479+5G>A
2 papers
NM_145263.4
p.R454C
c.1360C>T
1 paper
NM_145263.4
p.C512F
c.1535G>T
1 paper
NM_145263.4
p.R397L
c.1190G>T
1 paper
NM_145263.4
p.R397*
c.1189C>T
1 paper
NM_145263.4
p.R397fs
c.1189_1190fs
1 paper
NM_145263.4
p.S390I
c.1169G>T
1 paper
NM_145263.4
p.Q332*
c.994C>T
1 paper
NM_145263.4
p.Q318*
c.952C>T
1 paper
NM_145263.4
p.R305W
c.913C>T
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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."