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

6 papers

NM_130837.3

p.S495F

c.1484C>T

Surrounding Variants

4 papers

NM_015560.3

p.G439insFs

c.1316_1317insA

3 papers

NM_130837.3

p.G494V

c.1481G>T

NM_015560.3

p.G439V

c.1316G>T

1 paper

NM_130837.3

p.G494_A498delFs

c.1481_1494del14

1 paper

NM_015560.3

p.D438E

c.1314T>A

1 paper

NM_015560.3

p.D438D

c.1314T>C

1 paper

NM_015560.3

p.D438E

c.1314T>G

2 papers

NM_015560.3

p.D438A

c.1313A>C

1 paper

NM_015560.3

p.D442A

c.1325A>C

5 papers

NM_130837.3

p.D493G

c.1478A>G

NM_015560.3

p.D438G

c.1313A>G

3 papers

NM_015560.3

p.D438V

c.1313A>T

1 paper

NM_015560.3

p.D438Splc

c.1313-1G>A

1 paper

NM_130837.3

p.A498_L506del9

c.1492_1517del27