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_130837.3

p.M449L

c.1345A>C

Surrounding Variants

1 paper

NM_015560.3

p.M394V

c.1180A>G

1 paper

NM_130837.3

p.M449insFs

c.1346_1347insC

2 papers

NM_015560.3

p.R393R

c.1177A>C

NM_130837.3

p.R448R

c.1342A>C

1 paper

NM_130836.3

p.V432_L433del1

c.1296_1298delGCT

1 paper

NM_130837.3

p.V450G

c.1349T>G

1 paper

NM_015560.3

p.L396P

c.1187T>C

4 papers

NM_130837.3

p.L451R

c.1352T>G

NM_015560.3

p.L396R

c.1187T>G

3 papers

NM_130837.3

p.L446R

c.1337T>G

NM_015560.3

p.L391R

c.1172T>G

4 papers

NM_130837.3

p.V452delFs

c.1354delG

1 paper

NM_130837.3

p.V452fs

c.1354_1355fs

1 paper

NM_130836.3

p.V434A

c.1301T>C

44 papers

NM_130837.3

p.G445E

c.1334G>A