Varaico: Literature-Extracted Genetic Variants

Gene:SFXN4
Variant:p.A226V

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
1 paper
NM_213649.2
p.A226V
c.677C>T
Surrounding Variants
1 paper
NM_213649.2
p.A171G
c.512C>G
2 papers
NM_213649.2
p.T158fs
c.472_473fs
4 papers
NM_213649.2
p.Y157_T158Splc
c.471+1G>A
1 paper
NM_213649.2
p.Y157Y
c.471C>T
1 paper
NM_213649.2
p.Y144C
c.431A>G
1 paper
NM_213649.2
p.Q138_V139Splc
c.415-24C>T
2 papers
NM_213649.2
p.T120_V121Splc
c.361-2A>T
1 paper
NM_213649.2
p.S100N
c.299G>A
2 papers
NM_213649.2
p.Q86Q
c.258A>G
3 papers
NM_213649.2
p.P78delFs
c.233delG
2 papers
NM_213649.2
p.P78fs
c.232_233fs
1 paper
NM_213649.2
p.S76F
c.227C>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."