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.L439F

c.1317A>T

Surrounding Variants

1 paper

NM_130837.3

p.L439F

c.1317A>C

4 papers

NM_130837.3

p.N440fs

c.1318_1319fs

NM_015560.3

p.N385fs

c.1153_1154fs

4 papers

NM_130837.3

p.L439insFs

c.1316_1317insA

1 paper

NM_015560.3

p.N385delFs

c.1153_1154delAA

1 paper

NM_015560.3

p.N385_K387delFs

c.1154_1161del8

35 papers

NM_130837.3

p.I437M

c.1311A>G

NM_015560.3

p.I382M

c.1146A>G

NM_130836.3

p.I419M

c.1257A>G

1 paper

NM_130837.3

p.K442*

c.1324A>T

1 paper

NM_130837.3

p.T436S

c.1307C>G

3 papers

NM_130837.3

p.G443S

c.1327G>A

1 paper

NM_130837.3

p.G443C

c.1327G>T

1 paper

NM_130837.3

p.T436S

c.1306A>T

44 papers

NM_130837.3

p.G445E

c.1334G>A