Varaico: Literature-Extracted Genetic Variants

Gene:SPATA18
Variant:p.K231Q

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.K231Q
c.691A>C
Surrounding Variants
1 paper
NM_145263.4
p.K231fs
c.691_692fs
1 paper
NM_145263.4
p.K231delFs
c.691delA
1 paper
NM_145263.4
p.R234L
c.701G>T
4 papers
NM_145263.4
p.S227P
c.679T>C
1 paper
NM_145263.4
p.Q220H
c.660G>C
1 paper
NM_145263.4
p.Q220H
c.660G>T
1 paper
NM_145263.4
p.Q220_T223delFs
c.659_668del10
2 papers
NM_145263.4
p.S202N
c.605G>A
1 paper
NM_145263.4
p.P200L
c.599C>T
1 paper
NM_145263.4
p.S198T
c.592T>A
1 paper
NM_145263.4
p.D182Y
c.544G>T
1 paper
NM_145263.4
p.E150Q
c.448G>C
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."