Varaico: Literature-Extracted Genetic Variants

OXA1L

56 papers

RefSeq Summary

This gene encodes an evolutionarily conserved protein that is localized to the inner mitochondrial membrane. The encoded protein is essential for the translocation of the N-terminal tail of subunit 2 ...

Pfam Domains

60KD_IMPaa 131–337UCSC60Kd inner membrane protein

60KD_IMPaa 191–397UCSC60Kd inner membrane protein

Gene Aliases

HGNC Name

OXA1L mitochondrial inner membrane insertase

HGNC Alias Symbols

MGC133129; OXA1; OXA1L1

Papers

RefSeq ID

Protein change

DNA change

1–12 of 38 variants

3 papers

NM_005015.5

p.A167_I169insFs

c.500_507dup8

2 papers

NM_005015.5

p.R394W

c.1180A>T

1 paper

NM_005015.5

p.M1T

c.2T>C

1 paper

NM_005015.5

p.R20L

c.59G>T

1 paper

NM_005015.5

p.R21W

c.61C>T

1 paper

NM_005015.5

p.T89I

c.266C>T

1 paper

NM_005015.5

p.V91I

c.271G>A

1 paper

NM_005015.5

p.V91E

c.272T>A

1 paper

NM_005015.5

p.P92S

c.274C>T

1 paper

NM_005015.5

p.A95V

c.284C>T

1 paper

NM_005015.5

p.A100V

c.299C>T

1 paper

NM_005015.5

p.Q126H

c.378G>C