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.I104V

c.310A>G

Surrounding Variants

1 paper

NM_130837.3

p.I104insFs

c.310_311insC

2 papers

NM_130837.3

p.I104M

c.312A>G

2 papers

NM_130837.3

p.L105V

c.313C>G

1 paper

NM_130837.3

p.L105L

c.313C>T

4 papers

NM_130837.3

p.Y102C

c.305A>G

2 papers

NM_130837.3

p.L105L

c.315A>T

1 paper

NM_130837.3

p.G106G

c.318A>T

2 papers

NM_130837.3

p.S107_Y113del0

c.320_337del18

1 paper

NM_130837.3

p.R101fs

c.301_302fs

1 paper

NM_130837.3

p.S107*

c.320C>A

1 paper

NM_130837.3

p.S107L

c.320C>T

4 papers

NM_130837.3

p.S107S

c.321G>A