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.R92_L93del1

c.276_278delATT

Surrounding Variants

1 paper

NM_130837.3

p.R92K

c.275G>A

2 papers

NM_130837.3

p.R92T

c.275G>C

1 paper

NM_130837.3

p.L93*

c.278T>A

1 paper

NM_130837.3

p.L93*

c.278T>G

3 papers

NM_130837.3

p.W89*

c.267G>A

3 papers

NM_130837.3

p.T95M

c.284C>T

2 papers

NM_130837.3

p.W89*

c.266G>A

1 paper

NM_130837.3

p.W89R

c.265T>A

1 paper

NM_130837.3

p.W89R

c.265T>C

1 paper

NM_130837.3

p.F88L

c.262T>C

1 paper

NM_130837.3

p.K99_R101insFs

c.295_301dup7

1 paper

NM_130837.3

p.R85H

c.254G>A