Varaico: Literature-Extracted Genetic Variants

AFG3L2

272 papers

RefSeq Summary

This gene encodes a protein localized in mitochondria and closely related to paraplegin. The paraplegin gene is responsible for an autosomal recessive form of hereditary spastic paraplegia. This gene ...

Pfam Domains

FtsH_extaa 146–242UCSCFtsH Extracellular

AAAaa 344–477UCSCATPase family associated with various cellular activities (AAA)

AAA_lid_3aa 505–547UCSCAAA+ lid domain

Peptidase_M41aa 561–744UCSCPeptidase family M41

Gene Aliases

HGNC Name

AFG3 like matrix AAA peptidase subunit 2

HGNC Previous Symbol

SCA28

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_006796.3

p.R651G

c.1951A>G

Surrounding Variants

2 papers

NM_006796.3

p.V653insFs

c.1958dupT

4 papers

NM_006796.3

p.T654fs

c.1960_1961fs

10 papers

NM_006796.3

p.T654I

c.1961C>T

1 paper

NM_006796.3

p.T654fs

c.1960_1961fs

1 paper

NM_006796.3

p.Q655E

c.1963C>G

1 paper

NM_006796.3

p.S656fs

c.1966_1967fs

1 paper

NM_006796.3

p.S656delFs

c.1966_1967delCT

1 paper

NM_006796.3

p.A657S

c.1969G>T

3 papers

NM_006796.3

p.T644S

c.1931C>G

3 papers

NM_006796.3

p.T644S

c.1930A>T

3 papers

NM_006796.3

p.S634delFs

c.1901_1902delAG

1 paper

NM_006796.3

p.R632Q

c.1895G>A