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.L715F

c.2143C>T

Surrounding Variants

1 paper

NM_006796.3

p.A714T

c.2140G>A

1 paper

NM_006796.3

p.T712I

c.2135C>T

1 paper

NM_006796.3

p.K710delFs

c.2130delT

20 papers

NM_006796.3

p.V723M

c.2167G>A

4 papers

NM_006796.3

p.I705T

c.2114T>C

16 papers

NM_006796.3

p.R702Q

c.2105G>A

1 paper

NM_006796.3

p.E700*

c.2098G>T

14 papers

NM_006796.3

p.E700K

c.2098G>A

1 paper

NM_006796.3

p.E691_D699ins3

c.2073_2096dup24

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.K725_V726Splc

c.2175+18G>A