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_015560.3

p.I215_D216delFs

c.644_647del4

Surrounding Variants

2 papers

NM_130837.3

p.K269fs

c.805_806fs

NM_015560.3

p.K214fs

c.640_641fs

2 papers

NM_130837.3

p.E268G

c.803A>G

2 papers

NM_130837.3

p.E268_K269delFs

c.804_805delGA

NM_015560.3

p.E213_K214delFs

c.639_640delGA

3 papers

NM_130837.3

p.Q272*

c.814C>T

1 paper

NM_130837.3

p.K267*

c.799A>T

5 papers

NM_130837.3

p.K267fs

c.799_800fs

NM_015560.3

p.K212fs

c.634_635fs

6 papers

NM_015560.3

p.K212delFs

c.635_636delAA

NM_130837.3

p.K267delFs

c.800_801delAA

1 paper

NM_130837.3

p.L273F

c.817C>T

1 paper

NM_015560.3

p.D211fs

c.631_632fs

1 paper

NM_130837.3

p.L273P

c.818T>C

2 papers

NM_015560.3

p.S210*

c.629C>A

NM_130837.3

p.S265*

c.794C>A

2 papers

NM_015560.3

p.S210*

c.629C>G

NM_130837.3

p.S265*

c.794C>G