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

17 papers

NM_130837.3

p.R38*

c.112C>T

Surrounding Variants

5 papers

NM_130837.3

p.R38R

c.112C>A

1 paper

NM_130837.3

p.R38_H44del7

c.112_131del21

3 papers

NM_130837.3

p.R38Q

c.113G>A

1 paper

NM_130837.3

p.R38R

c.114A>T

1 paper

NM_130837.3

p.I40insFs

c.118dupA

11 papers

NM_130837.3

p.R38_H44del0

c.113_130del18

1 paper

NM_130837.3

p.V36I

c.106G>A

1 paper

NM_130837.3

p.V36_H42del7

c.106_125del21

1 paper

NM_130837.3

p.Y41S

c.122A>C

1 paper

NM_130837.3

p.Y41F

c.122A>T

3 papers

NM_130837.3

p.H42Y

c.124C>T

1 paper

NM_130837.3

p.S43insFs

c.127_128insT