Varaico: Literature-Extracted Genetic Variants

Gene:AFG2B

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
1–12 of 114 variants
7 papers
NM_024063.3
p.G176V
c.527G>T
5 papers
NM_024063.3
p.I466M
c.1398T>G
4 papers
NM_024063.3
p.A41P
c.121G>C
3 papers
NM_024063.3
p.F71L
c.211T>C
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.V245E
c.734T>A
3 papers
NM_024063.3
p.S273C
c.818C>G
3 papers
NM_024063.3
p.L438P
c.1313T>C
3 papers
NM_024063.3
p.G689V
c.2066G>T
3 papers
NM_024063.3
p.Y738C
c.2213A>G
2 papers
NM_024063.3
p.C29G
c.85T>G
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