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

11 papers

NM_006796.3

p.A694E

c.2081C>A

Surrounding Variants

1 paper

NM_006796.3

p.A694S

c.2080G>T

4 papers

NM_006796.3

p.R695G

c.2083A>G

1 paper

NM_006796.3

p.R695K

c.2084G>A

1 paper

NM_006796.3

p.A692D

c.2075C>A

15 papers

NM_006796.3

p.E691K

c.2071G>A

2 papers

NM_006796.3

p.Y689_S690delFs

c.2067_2068delTG

1 paper

NM_006796.3

p.D699fs

c.2095_2096fs

1 paper

NM_006796.3

p.D699Y

c.2095G>T

1 paper

NM_006796.3

p.Y689*

c.2067C>G

1 paper

NM_006796.3

p.Y689*

c.2067C>A

1 paper

NM_006796.3

p.E691_D699ins3

c.2073_2096dup24

11 papers

NM_006796.3

p.Y689H

c.2065T>C