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

19 papers

NM_130837.3

p.S158N

c.473G>A

Surrounding Variants

1 paper

NM_130837.3

p.E160Q

c.478G>C

1 paper

NM_130837.3

p.P157insFs

c.469_470dupCC

1 paper

NM_130837.3

p.L156P

c.467T>C

5 papers

NM_130837.3

p.L156R

c.467T>G

1 paper

NM_130837.3

p.K154E

c.460A>G

1 paper

NM_130837.3

p.K164Q

c.490A>C

1 paper

NM_130837.3

p.E150fs

c.448_449fs

1 paper

NM_130837.3

p.A166_F169del0

c.498_506del9

1 paper

NM_130837.3

p.E150Splc

c.449-1G>T

1 paper

NM_130837.3

p.E150Splc

c.449-2A>C

1 paper

NM_130837.3

p.F169L

c.507T>A

1 paper

NM_130837.3

p.D170N

c.508G>A