Varaico: Literature-Extracted Genetic Variants

Gene:SPATA18
Variant:p.E45D

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
2 papers
NM_145263.4
p.E45D
c.135G>C
Surrounding Variants
2 papers
NM_145263.4
p.E45D
c.135G>T
1 paper
NM_145263.4
p.G52E
c.155G>A
1 paper
NM_145263.4
p.L54F
c.160C>T
1 paper
NM_145263.4
p.Q35E
c.103C>G
1 paper
NM_145263.4
p.G56E
c.167G>A
1 paper
NM_145263.4
p.R67C
c.199C>T
1 paper
NM_145263.4
p.R119L
c.356G>T
1 paper
NM_145263.4
p.E150Q
c.448G>C
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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."