Varaico: Literature-Extracted Genetic Variants

OPA1

776 papers

RefSeq Summary

The protein encoded by this gene is a nuclear-encoded mitochondrial protein with similarity to dynamin-related GTPases. The encoded protein localizes to the inner mitochondrial membrane and helps regu...

Pfam Domains

Dynamin_Naa 291–469UCSCDynamin family

OPA1_Caa 617–960UCSCDynamin-like GTPase OPA1 C-terminal

Gene Aliases

HGNC Name

OPA1 mitochondrial dynamin like GTPase

HGNC Alias Symbols

NTG; KIAA0567; FLJ12460; NPG; MGM1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_130837.3

p.R71C

c.211C>T

Surrounding Variants

2 papers

NM_130837.3

p.R71H

c.212G>A

1 paper

NM_130837.3

p.L70V

c.208T>G

1 paper

NM_130837.3

p.K72I

c.215A>T

2 papers

NM_130837.3

p.P69S

c.205C>T

1 paper

NM_130837.3

p.L68L

c.204T>C

1 paper

NM_130837.3

p.K74*

c.220A>T

1 paper

NM_130837.3

p.K74N

c.222A>C

1 paper

NM_130837.3

p.N67S

c.200A>G

2 papers

NM_130837.3

p.N67I

c.200A>T

1 paper

NM_130837.3

p.K74N

c.222A>T

1 paper

NM_130837.3

p.F75delFs

c.224delT

1 paper

NM_130837.3

p.F75fs

c.223_224fs