Varaico: Literature-Extracted Genetic Variants

Gene:AFG2B
Variant:p.S530R

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.S530R
c.1590T>G
Surrounding Variants
1 paper
NM_024063.3
p.S530R
c.1590T>A
1 paper
NM_024063.3
p.S530S
c.1590T>C
1 paper
NM_024063.3
p.S530R
c.1588A>C
1 paper
NM_024063.3
p.S530C
c.1588A>T
2 papers
NM_024063.3
p.P537P
c.1611G>A
1 paper
NM_024063.3
p.S521G
c.1561A>G
1 paper
NM_024063.3
p.A519D
c.1556C>A
1 paper
NM_024063.3
p.Q548*
c.1642C>T
1 paper
NM_024063.3
p.G508R
c.1522G>A
1 paper
NM_024063.3
p.G508R
c.1522G>C
1 paper
NM_024063.3
p.G505R
c.1513G>A
1 paper
NM_024063.3
p.G505R
c.1513G>C
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