Varaico: Literature-Extracted Genetic Variants

Gene:TMEM126A
Variant:p.R29Splc

TMEM126A

53 papers

RefSeq Summary

The protein encoded by this gene is a mitochondrial membrane protein of unknown function. Defects in this gene are a cause of optic atrophy type 7 (OPA7). Two transcript variants encoding different is...

Pfam Domains

TMEM126aa 11–191UCSCTransmembrane protein 126

Gene Aliases

HGNC Name

transmembrane protein 126A

HGNC Alias Symbols

DKFZp586C1924; OPA7

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_032273.4
p.R29Splc
c.86+2T>C
Surrounding Variants
1 paper
NM_032273.4
p.E28delFs
c.83delA
1 paper
NM_032273.4
p.P25S
c.73C>T
1 paper
NM_032273.4
p.Q23*
c.67C>T
1 paper
NM_032273.4
p.I21S
c.62T>G
1 paper
NM_032273.4
p.V15_D16insFs
c.45_46ins4
1 paper
NM_032273.4
p.V15F
c.43G>T
1 paper
NM_032273.4
p.E10_N11ins6
c.28_32ins18
1 paper
NM_032273.4
p.E10fs
c.28_29fs
1 paper
NM_032273.4
p.E10delFs
c.28delG
1 paper
NM_032273.4
p.H4ins2
c.10_11ins6
1 paper
NM_032273.4
p.E2*
c.4G>T
1 paper
NM_032273.4
p.E2del1
c.4_5delGAA
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."