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

4 papers

NM_006796.3

p.T430I

c.1289C>T

Surrounding Variants

1 paper

NM_006796.3

p.E428D

c.1284G>T

1 paper

NM_006796.3

p.E428D

c.1284G>C

14 papers

NM_006796.3

p.N432T

c.1295A>C

1 paper

NM_006796.3

p.S425R

c.1275T>G

1 paper

NM_006796.3

p.V436M

c.1306G>A

1 paper

NM_006796.3

p.G422insFs

c.1264dupG

1 paper

NM_006796.3

p.G422insFs

c.1264_1265insC

1 paper

NM_006796.3

p.G419fs

c.1255_1256fs

1 paper

NM_006796.3

p.R418T

c.1253G>C

1 paper

NM_006796.3

p.G417delins

c.1250_1251delinsAG

3 papers

NM_006796.3

p.R416S

c.1248A>T

3 papers

NM_006796.3

p.R416S

c.1248A>C