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

3 papers

NM_015560.3

p.V933I

c.2797G>A

Surrounding Variants

4 papers

NM_130837.3

p.V988F

c.2962G>T

1 paper

NM_015560.3

p.R932R

c.2796C>T

1 paper

NM_130837.3

p.R987H

c.2960G>A

1 paper

NM_130837.3

p.Q989insFs

c.2965dupC

4 papers

NM_130837.3

p.R987C

c.2959C>T

NM_015560.3

p.R932C

c.2794C>T

1 paper

NM_130837.3

p.Q989fs

c.2965_2966fs

1 paper

NM_130837.3

p.R987_V988del2

c.2959_2963del6

1 paper

NM_130837.3

p.R987_L990del0

c.2960_2968del9

1 paper

NM_130837.3

p.A991_E992del2

c.2971_2975del6

3 papers

NM_015560.3

p.A936A

c.2808G>A

1 paper

NM_015560.3

p.T929_R932delFs

c.2787_2794del8

1 paper

NM_130837.3

p.L983P

c.2948T>C