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.E292_K293del1

c.876_878delAAA

Surrounding Variants

1 paper

NM_015560.3

p.K238del1

c.712_714delAAG

1 paper

NM_130837.3

p.L291I

c.871T>A

22 papers

NM_130837.3

p.R290Q

c.869G>A

4 papers

NM_130837.3

p.R290L

c.869G>T

7 papers

NM_015560.3

p.R235*

c.703C>T

NM_130837.3

p.R290*

c.868C>T

2 papers

NM_130837.3

p.R290del1

c.868_869delCGA

1 paper

NM_130837.3

p.N295K

c.885C>A

1 paper

NM_130837.3

p.N295K

c.885C>G

1 paper

NM_130837.3

p.E297del1

c.889_890delGAA

1 paper

NM_130837.3

p.K296R

c.887A>G

1 paper

NM_130837.3

p.E297K

c.889G>A

1 paper

NM_130836.3

p.L280insFs

c.838_839insT