Varaico: Literature-Extracted Genetic Variants

Gene:SMG5
Variant:p.M1K

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.M1K
c.2T>A
Surrounding Variants
1 paper
NM_015327.3
p.T7fs
c.19_20fs
1 paper
NM_015327.3
p.G8fs
c.22_23fs
1 paper
NM_015327.3
p.V17A
c.50T>C
1 paper
NM_015327.3
p.R33*
c.97C>T
1 paper
NM_015327.3
p.K95E
c.283A>G
1 paper
NM_015327.3
p.H102Q
c.306C>G
1 paper
NM_015327.3
p.R112M
c.335G>T
1 paper
NM_015327.3
p.G118S
c.352G>A
1 paper
NM_015327.3
p.Q123E
c.367C>G
1 paper
NM_015327.3
p.T144T
c.432C>T
1 paper
NM_015327.3
p.P149T
c.445C>A
1 paper
NM_015327.3
p.L150P
c.449T>C
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."