Varaico: Literature-Extracted Genetic Variants

Gene:SMG5
Variant:p.P855R

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.P855R
c.2564C>G
Surrounding Variants
1 paper
NM_015327.3
p.Q846K
c.2536C>A
1 paper
NM_015327.3
p.S843G
c.2527A>G
1 paper
NM_015327.3
p.R872C
c.2614C>T
1 paper
NM_015327.3
p.G878G
c.2634C>T
1 paper
NM_015327.3
p.Q830R
c.2489A>G
1 paper
NM_015327.3
p.R821L
c.2462G>T
1 paper
NM_015327.3
p.R820H
c.2459G>A
1 paper
NM_015327.3
p.Q816R
c.2447A>G
1 paper
NM_015327.3
p.D890A
c.2669A>C
2 papers
NM_015327.3
p.D893A
c.2678A>C
1 paper
NM_015327.3
p.R907W
c.2719C>T
1 paper
NM_015327.3
p.K915E
c.2743A>G
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