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_015560.3

p.W837*

c.2511G>A

Surrounding Variants

1 paper

NM_015560.3

p.H838_Q839insT

c.2512_2516ins3

1 paper

NM_130837.3

p.H893delFs

c.2678delA

1 paper

NM_015560.3

p.W837*

c.2510G>A

1 paper

NM_130837.3

p.Q894insFs

c.2681_2682insT

1 paper

NM_015560.3

p.V840delFs

c.2518delG

1 paper

NM_015560.3

p.I833fs

c.2497_2498fs

1 paper

NM_130837.3

p.L887_I888Splc

c.2662-1G>T

1 paper

NM_130837.3

p.R898S

c.2694A>C

1 paper

NM_130837.3

p.R898S

c.2694A>T

1 paper

NM_130837.3

p.H899Y

c.2695C>T

1 paper

NM_130837.3

p.L901*

c.2702T>A

1 paper

NM_130837.3

p.L901*

c.2702T>G