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_130836.3

p.V940Splc

c.2819-2A>C

Surrounding Variants

1 paper

NM_015560.3

p.V903Splc

c.2708-2A>T

37 papers

NM_015560.3

p.V903_R904delFs

c.2708_2711del4

NM_130837.3

p.V958_R959delFs

c.2873_2876del4

2 papers

NM_015560.3

p.V903Splc

c.2708-1G>T

1 paper

NM_015560.3

p.V903delFs

c.2708delT

25 papers

NM_015560.3

p.V903fs

c.2707_2708fs

NM_130837.3

p.V958fs

c.2872_2873fs

1 paper

NM_130837.3

p.R960_K963del4

c.2878_2888del12

4 papers

NM_015560.3

p.R905*

c.2713C>T

NM_130837.3

p.R960*

c.2878C>T

1 paper

NM_130836.3

p.R942_L943delFs

c.2825_2828del4

1 paper

NM_015560.3

p.V903Splc

c.2708-10C>G

2 papers

NM_015560.3

p.R905Q

c.2714G>A

2 papers

NM_130837.3

p.L961F

c.2883A>C

1 paper

NM_130837.3

p.E962*

c.2884G>T