Varaico: Literature-Extracted Genetic Variants

Gene:NIPSNAP3A
Variant:p.T150S

NIPSNAP3A

30 papers

RefSeq Summary

NIPSNAP3A belongs to a family of proteins with putative roles in vesicular transport (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 3A

HGNC Alias Symbols

DKFZp564D177; FLJ13953; HSPC299; MGC14553; NIPSNAP4; TassC

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
7 papers
NM_015469.3
p.T150S
c.448A>T
Surrounding Variants
7 papers
NM_015469.3
p.T150S
c.449C>G
2 papers
NM_015469.3
p.G156D
c.467G>A
1 paper
NM_015469.3
p.V173A
c.518T>C
1 paper
NM_015469.3
p.V181L
c.541G>C
1 paper
NM_015469.3
p.E187G
c.560A>G
1 paper
NM_015469.3
p.G189R
c.565G>A
1 paper
NM_015469.3
p.G189R
c.565G>C
1 paper
NM_015469.3
p.Q124fs
c.370_371fs
1 paper
NM_015469.3
p.Q124delFs
c.371_372delAA
4 papers
NM_015469.3
p.R100Q
c.299G>A
2 papers
NM_015469.3
p.R96*
c.286C>T
1 paper
NM_015469.3
p.R80S
c.240A>C
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