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.L50delFs

c.148delC

Surrounding Variants

1 paper

NM_130837.3

p.L50I

c.148C>A

2 papers

NM_130837.3

p.K49_L50insGG

c.145_149ins6

1 paper

NM_130837.3

p.L50L

c.150T>C

1 paper

NM_130837.3

p.Q51E

c.151C>G

1 paper

NM_130837.3

p.Q51*

c.151C>T

1 paper

NM_130837.3

p.L48*

c.143T>A

1 paper

NM_130837.3

p.L48*

c.143T>G

1 paper

NM_130837.3

p.Q51Q

c.153A>G

2 papers

NM_130837.3

p.R52G

c.154C>G

14 papers

NM_130837.3

p.R52*

c.154C>T

1 paper

NM_130837.3

p.T47I

c.140C>T

1 paper

NM_130837.3

p.H45_P46Fs

c.134_136delinsCCFs