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.S674del1

c.2020_2021delGGA

Surrounding Variants

1 paper

NM_006796.3

p.S674delins

c.2021_2022delinsTA

1 paper

NM_006796.3

p.D676_L677insFs

c.2028_2029insA

1 paper

NM_006796.3

p.L677fs

c.2029_2030fs

2 papers

NM_006796.3

p.R679C

c.2035C>T

9 papers

NM_006796.3

p.G671E

c.2012G>A

4 papers

NM_006796.3

p.G671W

c.2011G>T

15 papers

NM_006796.3

p.G671R

c.2011G>C

15 papers

NM_006796.3

p.G671R

c.2011G>A

1 paper

NM_006796.3

p.D682Y

c.2044G>T

1 paper

NM_006796.3

p.N667I

c.2000A>T

1 paper

NM_006796.3

p.M666I

c.1998G>T

1 paper

NM_006796.3

p.M666I

c.1998G>C