Varaico: Literature-Extracted Genetic Variants

Gene:SFXN4
Variant:p.R247fs

SFXN4

36 papers

RefSeq Summary

This gene encodes a member of the sideroflexin family. The encoded protein is a transmembrane protein of the inner mitochondrial membrane, and is required for mitochondrial respiratory homeostasis and...

Pfam Domains

SFXNsaa 27–337UCSCSideroflexins

Gene Aliases

HGNC Name

sideroflexin 4

HGNC Alias Symbol

SLC56A4

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_213649.2
p.R247fs
c.739_740fs
Surrounding Variants
3 papers
NM_213649.2
p.R247insFs
c.739dupA
1 paper
NM_213649.2
p.I254M
c.762A>G
1 paper
NM_213649.2
p.K272Q
c.814A>C
1 paper
NM_213649.2
p.R273G
c.817A>G
1 paper
NM_213649.2
p.R273G
c.817A>G
1 paper
NM_213649.2
p.L298L
c.894G>C
1 paper
NM_213649.2
p.I310fs
c.928_929fs
1 paper
NM_213649.2
p.I310delFs
c.930delA
1 paper
NM_213649.2
p.L318H
c.953T>A
2 papers
NM_213649.2
p.Q323fs
c.967_968fs
1 paper
NM_213649.2
p.Q323H
c.969G>T
1 paper
NM_213649.2
p.Q323H
c.969G>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."