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

1 paper

NM_006796.3

p.G417delins

c.1250_1251delinsAG

Surrounding Variants

1 paper

NM_006796.3

p.R418T

c.1253G>C

3 papers

NM_006796.3

p.R416S

c.1248A>T

3 papers

NM_006796.3

p.R416S

c.1248A>C

1 paper

NM_006796.3

p.G419fs

c.1255_1256fs

1 paper

NM_006796.3

p.G422insFs

c.1264_1265insC

1 paper

NM_006796.3

p.G422insFs

c.1264dupG

1 paper

NM_006796.3

p.A411E

c.1232C>A

1 paper

NM_006796.3

p.I409_D410delFs

c.1225_1229del5

1 paper

NM_006796.3

p.S425R

c.1275T>G

1 paper

NM_006796.3

p.L404_E408delFs

c.1212_1222del11

4 papers

NM_006796.3

p.E408Q

c.1222G>C

4 papers

NM_006796.3

p.D407G

c.1220A>G