Varaico: Literature-Extracted Genetic Variants

Gene:AFG1L

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
1–12 of 40 variants
3 papers
NM_145315.5
p.I371V
c.1111A>G
3 papers
NM_145315.5
p.F455L
c.1363T>C
3 papers
NM_145315.5
p.F455L
c.1365T>A
3 papers
NM_145315.5
p.F455L
c.1365T>G
2 papers
NM_145315.5
p.E201K
c.601G>A
2 papers
NM_145315.5
p.M307V
c.919A>G
2 papers
NM_145315.5
p.A408A
c.1224G>A
1 paper
NM_145315.5
p.A3T
c.7G>A
1 paper
NM_145315.5
p.Q16R
c.47A>G
1 paper
NM_145315.5
p.Q16L
c.47A>T
1 paper
NM_145315.5
p.K46N
c.138A>C
1 paper
NM_145315.5
p.K46N
c.138A>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."