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.H44L

c.131A>T

Surrounding Variants

1 paper

NM_130837.3

p.H44R

c.131A>G

1 paper

NM_130837.3

p.H44fs

c.130_131fs

1 paper

NM_130837.3

p.H45_P46Fs

c.134_136delinsCCFs

1 paper

NM_130837.3

p.S43*

c.128C>G

1 paper

NM_130837.3

p.S43_P46delins

c.128_137delinsC

1 paper

NM_130837.3

p.H42Q

c.126T>A

1 paper

NM_130837.3

p.H44insFs

c.130_131ins5

1 paper

NM_130837.3

p.S43del1

c.127_128delTCA

1 paper

NM_130837.3

p.S43insFs

c.127_128insT

3 papers

NM_130837.3

p.H42Y

c.124C>T

1 paper

NM_130837.3

p.Y41S

c.122A>C

1 paper

NM_130837.3

p.Y41F

c.122A>T