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_015560.3

p.L939delFs

c.2815delC

Surrounding Variants

1 paper

NM_015560.3

p.L939fs

c.2815_2816fs

1 paper

NM_015560.3

p.L939fs

c.2815_2816fs

1 paper

NM_130837.3

p.K995*

c.2983A>T

3 papers

NM_015560.3

p.A936A

c.2808G>A

1 paper

NM_015560.3

p.K940Splc

c.2818+1G>A

1 paper

NM_015560.3

p.K940Splc

c.2818+2T>C

1 paper

NM_130837.3

p.A991_E992del2

c.2971_2975del6

1 paper

NM_130837.3

p.K995Splc

c.2983+4A>G

5 papers

NM_130837.3

p.K995Splc

c.2983+5G>A

NM_015560.3

p.K940Splc

c.2818+5G>A

2 papers

NM_130837.3

p.K995Splc

c.2983+6T>C

NM_015560.3

p.K940Splc

c.2818+6T>C

1 paper

NM_130837.3

p.Q989fs

c.2965_2966fs

1 paper

NM_130837.3

p.Q989insFs

c.2965dupC