Varaico: Literature-Extracted Genetic Variants

Gene:NOA1
Variant:p.Y495S

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
1 paper
NM_032313.4
p.Y495S
c.1484A>C
Surrounding Variants
1 paper
NM_032313.4
p.D496V
c.1487A>T
1 paper
NM_032313.4
p.S477Y
c.1430C>A
1 paper
NM_032313.4
p.H475R
c.1424A>G
1 paper
NM_032313.4
p.D465H
c.1393G>C
1 paper
NM_032313.4
p.D451H
c.1351G>C
1 paper
NM_032313.4
p.T442K
c.1325C>A
1 paper
NM_032313.4
p.T384A
c.1150A>G
1 paper
NM_032313.4
p.T365T
c.1095T>C
1 paper
NM_032313.4
p.G321S
c.961G>A
1 paper
NM_032313.4
p.S306C
c.917C>G
1 paper
NM_032313.4
p.D292V
c.875A>T
1 paper
NM_032313.4
p.E270fs
c.808_809fs
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