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.F519L

c.1557C>A

Surrounding Variants

1 paper

NM_130837.3

p.F519L

c.1557C>G

1 paper

NM_130837.3

p.V520_L521del1

c.1560_1562delTTT

1 paper

NM_130837.3

p.F519L

c.1555T>C

1 paper

NM_130837.3

p.F519del1

c.1555_1557delTTC

1 paper

NM_130837.3

p.I518K

c.1553T>A

1 paper

NM_130837.3

p.I518L

c.1552A>C

1 paper

NM_015560.3

p.I463_F464ins0

c.1387_1392dup6

2 papers

NM_130837.3

p.T517I

c.1550C>T

1 paper

NM_130837.3

p.K523delFs

c.1569delA

4 papers

NM_130837.3

p.K523E

c.1567A>G

NM_015560.3

p.K468E

c.1402A>G

1 paper

NM_130837.3

p.R516K

c.1547G>A

1 paper

NM_130837.3

p.K523_V524insFs

c.1569_1570insT