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_015560.3

p.N404_T405Splc

c.1212+1G>T

Surrounding Variants

6 papers

NM_130837.3

p.N459_T460Splc

c.1377+1G>A

NM_015560.3

p.N404_T405Splc

c.1212+1G>A

1 paper

NM_130837.3

p.N459_T460Splc

c.1377+1G>C

1 paper

NM_015560.3

p.N404_T405Splc

c.1212+2T>G

1 paper

NM_130837.3

p.N459_T460Splc

c.1377+3A>T

1 paper

NM_130837.3

p.N459delFs

c.1377delT

1 paper

NM_130837.3

p.N459fs

c.1375_1376fs

1 paper

NM_130837.3

p.N459_T460Splc

c.1377+5G>A

3 papers

NM_130837.3

p.N459_T460Splc

c.1377+5G>C

NM_015560.3

p.N404_T405Splc

c.1212+5G>C

1 paper

NM_015560.3

p.I403T

c.1208T>C

1 paper

NM_130837.3

p.N459_T460Splc

c.1377+9A>G

5 papers

NM_130837.3

p.V457M

c.1369G>A

NM_015560.3

p.V402M

c.1204G>A

5 papers

NM_015560.3

p.G401D

c.1202G>A

NM_130837.3

p.G456D

c.1367G>A