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.G958_E959delFs

c.2873_2876del4

Surrounding Variants

2 papers

NM_130837.3

p.K979_I980del1

c.2936_2938delAGA

1 paper

NM_130837.3

p.K979R

c.2936A>G

2 papers

NM_130837.3

p.E970_K978del9

c.2908_2933del27

1 paper

NM_130837.3

p.L983delFs

c.2949delT

1 paper

NM_130837.3

p.L983P

c.2948T>C

1 paper

NM_015560.3

p.T929_R932delFs

c.2787_2794del8

1 paper

NM_130837.3

p.E967*

c.2899G>T

1 paper

NM_130837.3

p.R987_L990del0

c.2960_2968del9

1 paper

NM_130836.3

p.K948insFs

c.2844dupA

1 paper

NM_130837.3

p.R987_V988del2

c.2959_2963del6

5 papers

NM_015560.3

p.V910D

c.2729T>A

4 papers

NM_130837.3

p.R987C

c.2959C>T

NM_015560.3

p.R932C

c.2794C>T