Varaico: Literature-Extracted Genetic Variants

Gene:SMG5
Variant:p.K614N

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.K614N
c.1842G>C
Surrounding Variants
1 paper
NM_015327.3
p.K614N
c.1842G>T
1 paper
NM_015327.3
p.P606S
c.1816C>T
1 paper
NM_015327.3
p.T600P
c.1798A>C
1 paper
NM_015327.3
p.P598T
c.1792C>A
1 paper
NM_015327.3
p.Q593H
c.1779G>T
1 paper
NM_015327.3
p.Q593H
c.1779G>C
1 paper
NM_015327.3
p.L591F
c.1771C>T
1 paper
NM_015327.3
p.L583R
c.1748T>G
1 paper
NM_015327.3
p.R582Q
c.1745G>A
1 paper
NM_015327.3
p.C580W
c.1740C>G
1 paper
NM_015327.3
p.R579C
c.1735C>T
1 paper
NM_015327.3
p.N553S
c.1658A>G
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