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.R536_I537Splc

c.1608+22C>G

Surrounding Variants

1 paper

NM_130837.3

p.R536_I537Splc

c.1608+2T>C

2 papers

NM_130837.3

p.R536_I537Splc

c.1608+1G>A

1 paper

NM_130837.3

p.R536_I537Splc

c.1608+1G>T

1 paper

NM_130837.3

p.S535R

c.1605C>A

1 paper

NM_130837.3

p.S535R

c.1605C>G

1 paper

NM_130837.3

p.S535R

c.1603A>C

1 paper

NM_130837.3

p.S533S

c.1599T>C

1 paper

NM_130837.3

p.K529I

c.1586A>T

1 paper

NM_130837.3

p.E528G

c.1583A>G

1 paper

NM_015560.3

p.A472_P479delFs

c.1416_1437del22

1 paper

NM_130837.3

p.A527T

c.1579G>A

1 paper

NM_130837.3

p.L526P

c.1577T>C