Varaico: Literature-Extracted Genetic Variants

Gene:AFG2B
Variant:p.F71L

AFG2B

75 papers

Pfam Domains

AAAaa 237–368UCSCATPase family associated with various cellular activities (AAA)
AAA_lid_3aa 390–437UCSCAAA+ lid domain
AAAaa 501–652UCSCATPase family associated with various cellular activities (AAA)
AAA_lid_3aa 674–721UCSCAAA+ lid domain

Gene Aliases

HGNC Name

AAA ATPase AFG2B

HGNC Previous Symbol

SPATA5L1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
3 papers
NM_024063.3
p.F71L
c.211T>C
Surrounding Variants
3 papers
NM_024063.3
p.F71L
c.213T>A
3 papers
NM_024063.3
p.F71L
c.213T>G
2 papers
NM_024063.3
p.D66Y
c.196G>T
2 papers
NM_024063.3
p.R64W
c.190C>T
1 paper
NM_024063.3
p.C59fs
c.175_176fs
1 paper
NM_024063.3
p.C59delFs
c.175delT
4 papers
NM_024063.3
p.A41P
c.121G>C
1 paper
NM_024063.3
p.P103L
c.308C>T
1 paper
NM_024063.3
p.G32D
c.95G>A
1 paper
NM_024063.3
p.L31V
c.91C>G
1 paper
NM_024063.3
p.R30C
c.88C>T
2 papers
NM_024063.3
p.C29G
c.85T>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."