Varaico: Literature-Extracted Genetic Variants

Gene:SMG5
Variant:p.A990fs

SMG5

109 papers

RefSeq Summary

SMG5 is involved in nonsense-mediated mRNA decay (Ohnishi et al., 2003 [PubMed 14636577]).[supplied by OMIM, Mar 2008].

Pfam Domains

EST1aa 77–189UCSCTelomerase activating protein Est1
EST1_DNA_bindaa 197–421UCSCEst1 DNA/RNA binding domain
PIN_4aa 857–968UCSCPIN domain

Gene Aliases

HGNC Name

SMG5 nonsense mediated mRNA decay factor

HGNC Alias Symbols

KIAA1089; LPTS-RP1; LPTSRP1; RP11-54H19.7; SMG-5; EST1B

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_015327.3
p.A990fs
c.2968_2969fs
Surrounding Variants
1 paper
NM_015327.3
p.A996V
c.2987C>T
1 paper
NM_015327.3
p.H997H
c.2991C>T
1 paper
NM_015327.3
p.M988_Q989delFs
c.2964_2967del4
1 paper
NM_015327.3
p.Q989Q
c.2967G>A
1 paper
NM_015327.3
p.Y946H
c.2836T>C
1 paper
NM_015327.3
p.T944fs
c.2830_2831fs
1 paper
NM_015327.3
p.L935L
c.2803C>T
1 paper
NM_015327.3
p.R932R
c.2796G>A
1 paper
NM_015327.3
p.R932W
c.2794C>T
1 paper
NM_015327.3
p.G916A
c.2747G>C
1 paper
NM_015327.3
p.K915E
c.2743A>G
1 paper
NM_015327.3
p.R907W
c.2719C>T
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