Varaico: Literature-Extracted Genetic Variants

Gene:AFG2B
Variant:p.Y738C

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.Y738C
c.2213A>G
Surrounding Variants
1 paper
NM_024063.3
p.V726fs
c.2176_2177fs
1 paper
NM_024063.3
p.V726delFs
c.2176_2177delGT
1 paper
NM_024063.3
p.*754Y
c.2262A>C
1 paper
NM_024063.3
p.*754Y
c.2262A>T
2 papers
NM_024063.3
p.Q716fs
c.2146_2147fs
2 papers
NM_024063.3
p.Q716delFs
c.2147_2148delAA
3 papers
NM_024063.3
p.G689V
c.2066G>T
1 paper
NM_024063.3
p.I671V
c.2011A>G
1 paper
NM_024063.3
p.M669R
c.2006T>G
1 paper
NM_024063.3
p.T668N
c.2003C>A
1 paper
NM_024063.3
p.K667N
c.2001A>C
1 paper
NM_024063.3
p.K667N
c.2001A>T
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