Varaico: Literature-Extracted Genetic Variants

Gene:AFG2B
Variant:p.R252Q

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
2 papers
NM_024063.3
p.R252Q
c.755G>A
Surrounding Variants
1 paper
NM_024063.3
p.A255V
c.764C>T
3 papers
NM_024063.3
p.V245E
c.734T>A
3 papers
NM_024063.3
p.S273C
c.818C>G
1 paper
NM_024063.3
p.R290G
c.868C>G
2 papers
NM_024063.3
p.E207fs
c.619_620fs
1 paper
NM_024063.3
p.S206P
c.616T>C
2 papers
NM_024063.3
p.L202_E207insFs
c.606_619dup14
1 paper
NM_024063.3
p.D303H
c.907G>C
1 paper
NM_024063.3
p.E304Q
c.910G>C
1 paper
NM_024063.3
p.E304E
c.912G>A
1 paper
NM_024063.3
p.Q197L
c.590A>T
1 paper
NM_024063.3
p.P310L
c.929C>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."