Varaico: Literature-Extracted Genetic Variants

Gene:NOA1
Variant:p.Q579R

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
Selected Variant
3 papers
NM_032313.4
p.Q579R
c.1736A>G
Surrounding Variants
1 paper
NM_032313.4
p.A582T
c.1744G>A
2 papers
NM_032313.4
p.L548L
c.1644G>A
2 papers
NM_032313.4
p.V536I
c.1606G>A
1 paper
NM_032313.4
p.I524V
c.1570A>G
1 paper
NM_032313.4
p.G592V
c.1775G>T
1 paper
NM_032313.4
p.A598A
c.1794A>G
3 papers
NM_032313.4
p.P601L
c.1802C>T
1 paper
NM_032313.4
p.G650*
c.1948G>T
1 paper
NM_032313.4
p.R656Q
c.1967G>A
1 paper
NM_032313.4
p.P661R
c.1982C>G
1 paper
NM_032313.4
p.N665N
c.1995C>T
3 papers
NM_032313.4
p.P682S
c.2044C>T
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