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

3 papers

NM_015560.3

p.T449R

c.1346C>G

NM_130837.3

p.T504R

c.1511C>G

Surrounding Variants

1 paper

NM_015560.3

p.T449insFs

c.1346dupC

1 paper

NM_015560.3

p.T449P

c.1345A>C

1 paper

NM_130837.3

p.T504delFs

c.1511delC

1 paper

NM_015560.3

p.D450fs

c.1348_1349fs

1 paper

NM_130837.3

p.I502S

c.1505T>G

1 paper

NM_015560.3

p.V452delFs

c.1354delG

1 paper

NM_015560.3

p.V452fs

c.1354_1355fs

1 paper

NM_130837.3

p.S501C

c.1501A>T

28 papers

NM_130837.3

p.R500H

c.1499G>A

NM_015560.3

p.R445H

c.1334G>A

2 papers

NM_015560.3

p.R445G

c.1333C>G

NM_130837.3

p.R500G

c.1498C>G

1 paper

NM_015560.3

p.Q454*

c.1360C>T

1 paper

NM_015560.3

p.E444A

c.1331A>C