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.G309D

c.926G>A

Surrounding Variants

2 papers

NM_130837.3

p.D307delFs

c.920_921delAC

1 paper

NM_130837.3

p.D307fs

c.919_920fs

3 papers

NM_130837.3

p.H312Y

c.934C>T

1 paper

NM_130837.3

p.R313G

c.937A>G

1 paper

NM_130837.3

p.K305Q

c.913A>C

1 paper

NM_130837.3

p.Q304_K305insFs

c.911_914dup4

2 papers

NM_130837.3

p.Q304*

c.910C>T

1 paper

NM_130837.3

p.L315F

c.943C>T

2 papers

NM_130837.3

p.K316*

c.946A>T

1 paper

NM_130837.3

p.K316_K317Splc

c.948+1G>A

1 paper

NM_130837.3

p.L301*

c.902T>A

1 paper

NM_130837.3

p.L301*

c.902T>G