Varaico: Literature-Extracted Genetic Variants

Gene:SFXN4
Variant:p.S76F

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.S76F
c.227C>T
Surrounding Variants
2 papers
NM_213649.2
p.P78fs
c.232_233fs
3 papers
NM_213649.2
p.P78delFs
c.233delG
2 papers
NM_213649.2
p.Q86Q
c.258A>G
1 paper
NM_213649.2
p.S100N
c.299G>A
1 paper
NM_213649.2
p.D51N
c.151G>A
1 paper
NM_213649.2
p.R41*
c.121C>T
1 paper
NM_213649.2
p.R18K
c.53G>A
1 paper
NM_213649.2
p.R13R
c.39G>A
2 papers
NM_213649.2
p.P11delFs
c.32delG
1 paper
NM_213649.2
p.P11fs
c.31_32fs
1 paper
NM_213649.2
p.E7V
c.20A>T
1 paper
NM_213649.2
p.E7K
c.19G>A
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