Varaico: Literature-Extracted Genetic Variants

Gene:NIPSNAP3B
Variant:p.N48K

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.N48K
c.144T>A
Surrounding Variants
1 paper
NM_018376.4
p.N48K
c.144T>G
1 paper
NM_018376.4
p.A51E
c.152C>A
1 paper
NM_018376.4
p.M53L
c.157A>C
1 paper
NM_018376.4
p.M53L
c.157A>T
1 paper
NM_018376.4
p.T41S
c.122C>G
1 paper
NM_018376.4
p.L56F
c.166C>T
1 paper
NM_018376.4
p.T41A
c.121A>G
1 paper
NM_018376.4
p.T41S
c.121A>T
2 papers
NM_018376.4
p.K57E
c.169A>G
1 paper
NM_018376.4
p.R40H
c.119G>A
1 paper
NM_018376.4
p.R40C
c.118C>T
1 paper
NM_018376.4
p.T27M
c.80C>T
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