Varaico: Literature-Extracted Genetic Variants

Gene:SMG5
Variant:p.R765C

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.R765C
c.2293C>T
Surrounding Variants
1 paper
NM_015327.3
p.F772L
c.2314T>C
1 paper
NM_015327.3
p.F772L
c.2316T>G
1 paper
NM_015327.3
p.F772L
c.2316T>A
1 paper
NM_015327.3
p.G773S
c.2317G>A
1 paper
NM_015327.3
p.E789G
c.2366A>G
1 paper
NM_015327.3
p.G791_I792insFs
c.2373_2374insG
1 paper
NM_015327.3
p.V794I
c.2380G>A
1 paper
NM_015327.3
p.Q809R
c.2426A>G
1 paper
NM_015327.3
p.P754L
c.2261C>T
1 paper
NM_015327.3
p.T751A
c.2251A>G
1 paper
NM_015327.3
p.R746C
c.2236C>T
1 paper
NM_015327.3
p.R741G
c.2221C>G
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