Varaico: Literature-Extracted Genetic Variants

Gene:NIPSNAP3B
Variant:p.E190A

NIPSNAP3B

27 papers

RefSeq Summary

NIPSNAP3B belongs to a family of proteins with putative roles in vesicular trafficking (Buechler et al., 2004 [PubMed 15177564]).[supplied by OMIM, Mar 2008].

Pfam Domains

NIPSNAPaa 37–136UCSCNIPSNAP
NIPSNAPaa 146–245UCSCNIPSNAP

Gene Aliases

HGNC Name

nipsnap homolog 3B

HGNC Alias Symbols

FLJ11275; NIPSNAP3; SNAP1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_018376.4
p.E190A
c.569A>C
Surrounding Variants
1 paper
NM_018376.4
p.G182A
c.545G>C
1 paper
NM_018376.4
p.V180L
c.538G>C
1 paper
NM_018376.4
p.V180L
c.538G>T
1 paper
NM_018376.4
p.N170H
c.508A>C
1 paper
NM_018376.4
p.I169V
c.505A>G
1 paper
NM_018376.4
p.E166K
c.496G>A
4 papers
NM_018376.4
p.A159G
c.476C>G
4 papers
NM_018376.4
p.K154E
c.460A>G
1 paper
NM_018376.4
p.M153I
c.459G>A
1 paper
NM_018376.4
p.M153I
c.459G>C
1 paper
NM_018376.4
p.M153I
c.459G>T
1 paper
NM_018376.4
p.V223Splc
c.667+1G>A
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