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.F915S

c.2744T>C

Surrounding Variants

1 paper

NM_130837.3

p.Y917H

c.2749T>C

1 paper

NM_015560.3

p.Y862insFs

c.2585dupA

1 paper

NM_015560.3

p.Y862*

c.2586C>A

1 paper

NM_015560.3

p.Y862_Y863insFs

c.2586_2587insA

1 paper

NM_015560.3

p.Y862*

c.2586C>G

1 paper

NM_015560.3

p.Y863fs

c.2587_2588fs

1 paper

NM_130837.3

p.R912Q

c.2735G>A

6 papers

NM_130837.3

p.R912*

c.2734C>T

NM_015560.3

p.R857*

c.2569C>T

1 paper

NM_015560.3

p.Q864*

c.2590C>T

1 paper

NM_130837.3

p.C911S

c.2732G>C

1 paper

NM_130837.3

p.C911S

c.2731T>A

1 paper

NM_015560.3

p.C856fs

c.2566_2567fs