Varaico: Literature-Extracted Genetic Variants

Gene:NOA1

NOA1

54 papers

RefSeq Summary

The protein encoded by this gene is a nuclear-encoded GTPase that functions in the mitochondrion. Upon translation, this protein is imported into the nucleus and then into the nucleolus before being e...

Pfam Domains

MMR_HSR1aa 340–401UCSC50S ribosome-binding GTPase
YqeH-like_Caa 553–659UCSCYqeH-like, C-terminal

Gene Aliases

HGNC Name

nitric oxide associated 1

HGNC Previous Symbol

C4orf14

Papers
RefSeq ID
Protein change
DNA change
1–12 of 48 variants
3 papers
NM_032313.4
p.Q579R
c.1736A>G
3 papers
NM_032313.4
p.P601L
c.1802C>T
3 papers
NM_032313.4
p.P682S
c.2044C>T
2 papers
NM_032313.4
p.V536I
c.1606G>A
2 papers
NM_032313.4
p.L548L
c.1644G>A
1 paper
NM_032313.4
p.P7R
c.20C>G
1 paper
NM_032313.4
p.S41S
c.123C>A
1 paper
NM_032313.4
p.G49R
c.145G>C
1 paper
NM_032313.4
p.G49R
c.145G>A
1 paper
NM_032313.4
p.L91Q
c.272T>A
1 paper
NM_032313.4
p.V126I
c.376G>A
1 paper
NM_032313.4
p.H129Q
c.387C>G
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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."