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.I24T

c.71T>C

Surrounding Variants

1 paper

NM_130837.3

p.I24V

c.70A>G

2 papers

NM_130837.3

p.K25E

c.73A>G

1 paper

NM_130837.3

p.G26del1

c.76_77delGGA

1 paper

NM_130837.3

p.G23V

c.68G>T

1 paper

NM_130837.3

p.I24_K25del1

c.71_73delTAA

1 paper

NM_130837.3

p.G23Fs

c.69delinsGAFs

2 papers

NM_130837.3

p.G26E

c.77G>A

1 paper

NM_130837.3

p.S22P

c.64T>C

1 paper

NM_130837.3

p.P29delFs

c.86delC

1 paper

NM_130837.3

p.H20fs

c.58_59fs

1 paper

NM_130837.3

p.H20fs

c.58_59fs

1 paper

NM_130837.3

p.P29A

c.85C>G