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.Q226_L227Splc

c.678+1G>T

Surrounding Variants

1 paper

NM_130837.3

p.T280I

c.839C>T

1 paper

NM_130837.3

p.L278V

c.832C>G

1 paper

NM_015560.3

p.L222P

c.665T>C

1 paper

NM_130837.3

p.E276G

c.827A>G

1 paper

NM_130837.3

p.E276K

c.826G>A

1 paper

NM_130837.3

p.E276_L278del3

c.826_833del9

1 paper

NM_015560.3

p.Q219*

c.655C>T

1 paper

NM_130837.3

p.L273P

c.818T>C

1 paper

NM_130837.3

p.L273F

c.817C>T

3 papers

NM_130837.3

p.Q272*

c.814C>T

15 papers

NM_130837.3

p.Q281_L282Splc

c.843+32T>C

1 paper

NM_015560.3

p.I215_D216delFs

c.644_647del4