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.F75fs

c.223_224fs

Surrounding Variants

1 paper

NM_130837.3

p.K74N

c.222A>C

1 paper

NM_130837.3

p.K74N

c.222A>T

1 paper

NM_130837.3

p.F75delFs

c.224delT

1 paper

NM_130837.3

p.K74*

c.220A>T

1 paper

NM_130837.3

p.K72I

c.215A>T

1 paper

NM_130837.3

p.I78_K79del1

c.233_235delTTA

1 paper

NM_130837.3

p.I78N

c.233T>A

2 papers

NM_130837.3

p.R71H

c.212G>A

1 paper

NM_130837.3

p.R71C

c.211C>T

1 paper

NM_130837.3

p.K79N

c.237A>T

1 paper

NM_130837.3

p.L70V

c.208T>G

5 papers

NM_130837.3

p.Y80C

c.239A>G