Varaico: Literature-Extracted Genetic Variants

Gene:NIPSNAP3B
Variant:p.S113F

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.S113F
c.338C>T
Surrounding Variants
1 paper
NM_018376.4
p.I114L
c.340A>C
1 paper
NM_018376.4
p.W109L
c.326G>T
1 paper
NM_018376.4
p.R120L
c.359G>T
1 paper
NM_018376.4
p.N105K
c.315C>A
1 paper
NM_018376.4
p.N105K
c.315C>G
1 paper
NM_018376.4
p.K123_Q124delFs
c.369_370delAC
1 paper
NM_018376.4
p.T126S
c.376A>T
1 paper
NM_018376.4
p.A97T
c.289G>A
1 paper
NM_018376.4
p.R96Q
c.287G>A
1 paper
NM_018376.4
p.I132V
c.394A>G
5 papers
NM_018376.4
p.A94P
c.280G>C
1 paper
NM_018376.4
p.M153I
c.459G>A
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