Varaico: Literature-Extracted Genetic Variants

Gene:SNAP47
Variant:p.L133Q

SNAP47

22 papers

Pfam Domains

GRAMaa 39–148UCSCGRAM domain
PH_SNAP47_2ndaa 210–309UCSCSynaptosomal-associated protein 47 PH-like domain
PH_SNAP47_2ndaa 255–354UCSCSynaptosomal-associated protein 47 PH-like domain

Gene Aliases

HGNC Name

synaptosome associated protein 47

HGNC Previous Symbol

C1orf142

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_053052.4
p.L133Q
c.398T>A
Surrounding Variants
1 paper
NM_053052.4
p.Q130H
c.390G>C
1 paper
NM_053052.4
p.Q130H
c.390G>T
1 paper
NM_053052.4
p.Q130insFs
c.388_389insGA
1 paper
NM_053052.4
p.T123M
c.368C>T
1 paper
NM_053052.4
p.L147Q
c.440T>A
1 paper
NM_053052.4
p.V109M
c.325G>A
1 paper
NM_053052.4
p.P106H
c.317C>A
1 paper
NM_053052.4
p.V89M
c.265G>A
1 paper
NM_053052.4
p.I7I
c.21C>T
1 paper
NM_053052.4
p.D4N
c.10G>A
1 paper
NM_053052.4
p.S2C
c.4A>T
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."