Varaico: Literature-Extracted Genetic Variants

Gene:NOL8
Variant:p.R647insFs

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.R647insFs
c.1939dupA
Surrounding Variants
1 paper
NM_017948.6
p.K634M
c.1901A>T
1 paper
NM_017948.6
p.S623L
c.1868C>T
1 paper
NM_017948.6
p.G678C
c.2032G>T
1 paper
NM_017948.6
p.F693C
c.2078T>G
1 paper
NM_017948.6
p.A594V
c.1781C>T
1 paper
NM_017948.6
p.L589F
c.1767G>T
1 paper
NM_017948.6
p.L589F
c.1767G>C
1 paper
NM_017948.6
p.R711P
c.2132G>C
1 paper
NM_017948.6
p.S547F
c.1640C>T
1 paper
NM_017948.6
p.A546S
c.1636G>T
1 paper
NM_017948.6
p.D757N
c.2269G>A
1 paper
NM_017948.6
p.K772del1
c.2314_2315delTTT
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