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.L901*

c.2702T>G

Surrounding Variants

1 paper

NM_130837.3

p.L901*

c.2702T>A

1 paper

NM_015560.3

p.K847_L855insFs

c.2540_2564dup25

1 paper

NM_130837.3

p.T903delFs

c.2708_2709delCA

2 papers

NM_130837.3

p.T903delFs

c.2708delC

27 papers

NM_130837.3

p.T903_A904delFs

c.2708_2711del4

1 paper

NM_130837.3

p.T903_A904delFs

c.2708_2712del5

1 paper

NM_130837.3

p.T903T

c.2709A>G

1 paper

NM_130837.3

p.H899Y

c.2695C>T

1 paper

NM_130837.3

p.R898S

c.2694A>C

1 paper

NM_130837.3

p.R898S

c.2694A>T

1 paper

NM_015560.3

p.A849T

c.2545G>A

17 papers

NM_130837.3

p.L905L

c.2713C>T