Varaico: Literature-Extracted Genetic Variants

Gene:AFG2B
Variant:p.V131L

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
1 paper
NM_024063.3
p.V131L
c.391G>C
Surrounding Variants
1 paper
NM_024063.3
p.V131L
c.391G>T
1 paper
NM_024063.3
p.L132P
c.395T>C
1 paper
NM_024063.3
p.R126W
c.376C>T
1 paper
NM_024063.3
p.R119P
c.356G>C
1 paper
NM_024063.3
p.E118V
c.353A>T
1 paper
NM_024063.3
p.P103L
c.308C>T
1 paper
NM_024063.3
p.P172H
c.515C>A
7 papers
NM_024063.3
p.G176V
c.527G>T
3 papers
NM_024063.3
p.F71L
c.213T>A
3 papers
NM_024063.3
p.F71L
c.213T>G
3 papers
NM_024063.3
p.F71L
c.211T>C
2 papers
NM_024063.3
p.D66Y
c.196G>T
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."