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

5 papers

NM_006796.3

p.R632*

c.1894C>T

Surrounding Variants

1 paper

NM_006796.3

p.R632G

c.1894C>G

1 paper

NM_006796.3

p.R632Q

c.1895G>A

1 paper

NM_006796.3

p.L629delFs

c.1885_1886delAA

3 papers

NM_006796.3

p.S634delFs

c.1901_1902delAG

8 papers

NM_006796.3

p.M625I

c.1875G>T

8 papers

NM_006796.3

p.M625I

c.1875G>C

7 papers

NM_006796.3

p.M625I

c.1875G>A

4 papers

NM_006796.3

p.L621V

c.1861C>G

4 papers

NM_006796.3

p.Q620K

c.1858C>A

3 papers

NM_006796.3

p.T644S

c.1930A>T

3 papers

NM_006796.3

p.T644S

c.1931C>G

1 paper

NM_006796.3

p.E619K

c.1855G>A