Varaico: Literature-Extracted Genetic Variants

Gene:AFG1L
Variant:p.R323S

AFG1L

33 papers

RefSeq Summary

This gene encodes a mitochondrial integral membrane protein that plays a role in mitochondrial protein homeostasis. The protein contains a P-loop motif and a five-domain structure that is conserved in...

Pfam Domains

AFG1_ATPaseaa 74–433UCSCAFG1-like ATPase

Gene Aliases

HGNC Name

AFG1 like ATPase

HGNC Previous Symbol

LACE1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_145315.5
p.R323S
c.969A>T
Surrounding Variants
1 paper
NM_145315.5
p.R323S
c.969A>C
1 paper
NM_145315.5
p.V343I
c.1027G>A
1 paper
NM_145315.5
p.D345N
c.1033G>A
2 papers
NM_145315.5
p.M307V
c.919A>G
1 paper
NM_145315.5
p.A305A
c.915T>C
1 paper
NM_145315.5
p.E300E
c.900A>G
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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."