Varaico: Literature-Extracted Genetic Variants

Gene:SMG5
Variant:p.I355V

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
2 papers
NM_015327.3
p.I355V
c.1063A>G
Surrounding Variants
1 paper
NM_015327.3
p.L353F
c.1057C>T
1 paper
NM_015327.3
p.M358V
c.1072A>G
1 paper
NM_015327.3
p.C313Y
c.938G>A
1 paper
NM_015327.3
p.D306N
c.916G>A
1 paper
NM_015327.3
p.V289G
c.866T>G
1 paper
NM_015327.3
p.C281W
c.843T>G
1 paper
NM_015327.3
p.A379T
c.1135G>A
1 paper
NM_015327.3
p.R398W
c.1192C>T
1 paper
NM_015327.3
p.Q400K
c.1198C>A
1 paper
NM_015327.3
p.E404E
c.1212A>G
1 paper
NM_015327.3
p.P411L
c.1232C>T
1 paper
NM_015327.3
p.E430Q
c.1288G>C
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