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.T66K

c.197C>A

Surrounding Variants

1 paper

NM_130837.3

p.T66T

c.198A>T

1 paper

NM_130837.3

p.T66delFs

c.196_197delAC

1 paper

NM_130837.3

p.N67S

c.200A>G

2 papers

NM_130837.3

p.N67I

c.200A>T

1 paper

NM_130837.3

p.L65V

c.193C>G

1 paper

NM_130837.3

p.S64Y

c.191C>A

1 paper

NM_130837.3

p.S64delFs

c.192delT

1 paper

NM_130837.3

p.L68L

c.204T>C

2 papers

NM_130837.3

p.S64fs

c.190_191fs

7 papers

NM_130837.3

p.S64fs

c.190_191fs

2 papers

NM_130837.3

p.P69S

c.205C>T

1 paper

NM_130837.3

p.L65delFs

c.193_194delCT