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.K32Q

c.94A>C

Surrounding Variants

1 paper

NM_130837.3

p.K32insFs

c.95_96insT

1 paper

NM_130837.3

p.K32R

c.95A>G

1 paper

NM_130837.3

p.Q31_K32insFs

c.93_96dup4

2 papers

NM_130837.3

p.Q31*

c.91C>T

1 paper

NM_130837.3

p.L33_L35Fs

c.98_104delinsTCCFs

1 paper

NM_130837.3

p.L30_Q31insFs

c.90_91insA

1 paper

NM_130837.3

p.Q31ins0

c.91_93dupCAA

1 paper

NM_130837.3

p.P29A

c.85C>G

1 paper

NM_130837.3

p.P29fs

c.85_86fs

1 paper

NM_130837.3

p.P29delFs

c.86delC

1 paper

NM_130837.3

p.V36_H42del7

c.106_125del21

1 paper

NM_130837.3

p.V36I

c.106G>A