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

1–12 of 326 variants

23 papers

NM_006796.3

p.Y616C

c.1847A>G

20 papers

NM_006796.3

p.V723M

c.2167G>A

16 papers

NM_006796.3

p.R702Q

c.2105G>A

15 papers

NM_006796.3

p.M666R

c.1997T>G

15 papers

NM_006796.3

p.G671R

c.2011G>C

15 papers

NM_006796.3

p.G671R

c.2011G>A

15 papers

NM_006796.3

p.E691K

c.2071G>A

14 papers

NM_006796.3

p.N432T

c.1295A>C

14 papers

NM_006796.3

p.R468C

c.1402C>T

14 papers

NM_006796.3

p.E700K

c.2098G>A

13 papers

NM_006796.3

p.M666V

c.1996A>G

11 papers

NM_006796.3

p.Y689H

c.2065T>C