Varaico: Literature-Extracted Genetic Variants

Gene:SMG5
Variant:p.R637W

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.R637W
c.1909C>T
Surrounding Variants
1 paper
NM_015327.3
p.C636Y
c.1907G>A
1 paper
NM_015327.3
p.S635F
c.1904C>T
2 papers
NM_015327.3
p.R640C
c.1918C>T
1 paper
NM_015327.3
p.R640H
c.1919G>A
1 paper
NM_015327.3
p.K645E
c.1933A>G
1 paper
NM_015327.3
p.G623C
c.1867G>T
1 paper
NM_015327.3
p.E652*
c.1954G>T
1 paper
NM_015327.3
p.S681T
c.2042G>C
1 paper
NM_015327.3
p.R685C
c.2053C>T
1 paper
NM_015327.3
p.S687C
c.2060C>G
1 paper
NM_015327.3
p.L689S
c.2066T>C
1 paper
NM_015327.3
p.L690L
c.2070G>A
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