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.L17fs

c.49_50fs

Surrounding Variants

2 papers

NM_130837.3

p.L17insFs

c.49_50insGG

3 papers

NM_130837.3

p.L17*

c.50T>A

2 papers

NM_130837.3

p.L17*

c.50T>G

1 paper

NM_130837.3

p.V18_S21delFs

c.53_62del10

1 paper

NM_130837.3

p.L17delFs

c.50delT

1 paper

NM_130837.3

p.V18fs

c.52_53fs

6 papers

NM_130837.3

p.Q15K

c.43C>A

2 papers

NM_130837.3

p.H20_S21delFs

c.60_61delCA

1 paper

NM_130837.3

p.H20fs

c.58_59fs

1 paper

NM_130837.3

p.H20fs

c.58_59fs

1 paper

NM_130837.3

p.V13insFs

c.38_39ins11

2 papers

NM_130837.3

p.V13ins5

c.38_39ins15