Varaico: Literature-Extracted Genetic Variants

Gene:AFG1L
Variant:p.E206Q

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.E206Q
c.616G>C
Surrounding Variants
2 papers
NM_145315.5
p.E201K
c.601G>A
1 paper
NM_145315.5
p.E214Q
c.640G>C
1 paper
NM_145315.5
p.Q216_V217Splc
c.648+2T>A
1 paper
NM_145315.5
p.L177F
c.529C>T
1 paper
NM_145315.5
p.G165S
c.493G>A
1 paper
NM_145315.5
p.T143I
c.428C>T
1 paper
NM_145315.5
p.T143A
c.427A>G
1 paper
NM_145315.5
p.K142T
c.425A>C
1 paper
NM_145315.5
p.K142E
c.424A>G
1 paper
NM_145315.5
p.Q228K
c.682C>A
1 paper
NM_145315.5
p.F123L
c.369T>A
1 paper
NM_145315.5
p.F123L
c.369T>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."