Varaico: Literature-Extracted Genetic Variants

Gene:SNAPC3
Variant:p.R283K

SNAPC3

23 papers

Pfam Domains

SNAPC3aa 202–405UCSCsnRNA-activating protein complex (SNAPc), subunit 3

Gene Aliases

HGNC Name

small nuclear RNA activating complex polypeptide 3

HGNC Alias Symbols

SNAP50; PTFbeta; MGC33124; MGC132011

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001039697.2
p.R283K
c.848G>A
Surrounding Variants
1 paper
NM_001039697.2
p.Y264S
c.791A>C
1 paper
NM_001039697.2
p.D336_L339delFs
c.1006_1016del11
1 paper
NM_001039697.2
p.D336fs
c.1006_1007fs
1 paper
NM_001039697.2
p.T234A
c.700A>G
1 paper
NM_001039697.2
p.I227M
c.681T>G
1 paper
NM_001039697.2
p.Q214*
c.640C>T
1 paper
NM_001039697.2
p.T213T
c.639A>G
2 papers
NM_001039697.2
p.E398A
c.1193A>C
1 paper
NM_001039697.2
p.H193D
c.577C>G
1 paper
NM_001039697.2
p.P189T
c.565C>A
1 paper
NM_001039697.2
p.G178E
c.533G>A
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