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

2 papers

NM_130837.3

p.D453A

c.1358A>C

NM_015560.3

p.D398A

c.1193A>C

Surrounding Variants

1 paper

NM_130837.3

p.D453insFs

c.1357dupG

1 paper

NM_130836.3

p.V434A

c.1301T>C

1 paper

NM_130837.3

p.V452fs

c.1354_1355fs

2 papers

NM_015560.3

p.P400A

c.1198C>G

NM_130837.3

p.P455A

c.1363C>G

2 papers

NM_015560.3

p.P400S

c.1198C>T

4 papers

NM_130837.3

p.V452delFs

c.1354delG

6 papers

NM_015560.3

p.P400L

c.1199C>T

NM_130837.3

p.P455L

c.1364C>T

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

1 paper

NM_015560.3

p.G401R

c.1201G>C

5 papers

NM_015560.3

p.G401D

c.1202G>A

NM_130837.3

p.G456D

c.1367G>A

1 paper

NM_015560.3

p.G401A

c.1202G>C