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

6 papers

NM_006796.3

p.A462V

c.1385C>T

Surrounding Variants

1 paper

NM_006796.3

p.A462T

c.1384G>A

5 papers

NM_006796.3

p.L463L

c.1389G>A

1 paper

NM_006796.3

p.D460H

c.1378G>C

2 papers

NM_006796.3

p.R465K

c.1394G>A

2 papers

NM_006796.3

p.P466L

c.1397C>T

1 paper

NM_006796.3

p.D457H

c.1369G>C

1 paper

NM_006796.3

p.D457N

c.1369G>A

14 papers

NM_006796.3

p.R468C

c.1402C>T

1 paper

NM_006796.3

p.P456P

c.1368A>C

1 paper

NM_006796.3

p.R455Q

c.1364G>A

1 paper

NM_006796.3

p.R455*

c.1363C>T

1 paper

NM_006796.3

p.D470N

c.1408G>A