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

1–12 of 1586 variants

44 papers

NM_130837.3

p.G445E

c.1334G>A

27 papers

NM_130837.3

p.T903_A904delFs

c.2708_2711del4

22 papers

NM_130837.3

p.R290Q

c.869G>A

22 papers

NM_130837.3

p.I437M

c.1311A>G

20 papers

NM_130837.3

p.V958_R959delFs

c.2873_2876del4

19 papers

NM_130837.3

p.S158N

c.473G>A

19 papers

NM_015560.3

p.I382M

c.1146A>G

18 papers

NM_015560.3

p.R445H

c.1334G>A

18 papers

NM_015560.3

p.V903_R904delFs

c.2708_2711del4

17 papers

NM_130837.3

p.R38*

c.112C>T

17 papers

NM_130837.3

p.L905L

c.2713C>T

15 papers

NM_130837.3

p.Q281_L282Splc

c.843+32T>C