Varaico: Literature-Extracted Genetic Variants

Gene:SMG5
Variant:p.T538I

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.T538I
c.1613C>T
Surrounding Variants
3 papers
NM_015327.3
p.R543W
c.1627C>T
1 paper
NM_015327.3
p.E547D
c.1641G>C
2 papers
NM_015327.3
p.L552F
c.1654C>T
1 paper
NM_015327.3
p.L552I
c.1654C>A
1 paper
NM_015327.3
p.D524N
c.1570G>A
1 paper
NM_015327.3
p.N553S
c.1658A>G
1 paper
NM_015327.3
p.R522*
c.1564C>T
1 paper
NM_015327.3
p.N517S
c.1550A>G
1 paper
NM_015327.3
p.T506M
c.1517C>T
1 paper
NM_015327.3
p.G505R
c.1513G>C
1 paper
NM_015327.3
p.G505R
c.1513G>A
1 paper
NM_015327.3
p.R579C
c.1735C>T
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