Varaico: Literature-Extracted Genetic Variants

Gene:NOL8
Variant:p.Y474*

NOL8

56 papers

RefSeq Summary

NOL8 binds Ras-related GTP-binding proteins (see MIM 608267) and plays a role in cell growth (Sekiguchi et al., 2004 [PubMed 14660641]).[supplied by OMIM, Mar 2008].

Pfam Domains

RRM_1aa 10–83UCSCRNA recognition motif

Gene Aliases

HGNC Name

nucleolar protein 8

HGNC Previous Symbol

C9orf34

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_017948.6
p.Y474*
c.1422T>A
Surrounding Variants
1 paper
NM_017948.6
p.Y474*
c.1422T>G
1 paper
NM_017948.6
p.A476D
c.1427C>A
1 paper
NM_017948.6
p.E472D
c.1416G>T
1 paper
NM_017948.6
p.E472D
c.1416G>C
1 paper
NM_017948.6
p.K479R
c.1436A>G
1 paper
NM_017948.6
p.R483H
c.1448G>A
1 paper
NM_017948.6
p.L465S
c.1394T>C
1 paper
NM_017948.6
p.R430fs
c.1288_1289fs
1 paper
NM_017948.6
p.N414T
c.1241A>C
1 paper
NM_017948.6
p.A546S
c.1636G>T
1 paper
NM_017948.6
p.S547F
c.1640C>T
1 paper
NM_017948.6
p.N390fs
c.1168_1169fs
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