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

2 papers

NM_130837.3

p.G111S

c.331G>A

Surrounding Variants

1 paper

NM_130837.3

p.G111R

c.331G>C

1 paper

NM_130837.3

p.G111_G112insFs

c.333_334insG

1 paper

NM_130837.3

p.G112S

c.334G>A

1 paper

NM_130837.3

p.G112fs

c.334_335fs

1 paper

NM_130837.3

p.G111insFs

c.332dupG

1 paper

NM_130837.3

p.V109A

c.326T>C

2 papers

NM_130837.3

p.Y113*

c.339C>A

2 papers

NM_130837.3

p.Y113*

c.339C>G

4 papers

NM_130837.3

p.S107S

c.321G>A

1 paper

NM_130837.3

p.S107*

c.320C>A

1 paper

NM_130837.3

p.S107L

c.320C>T

1 paper

NM_130837.3

p.G106G

c.318A>T