Varaico: Literature-Extracted Genetic Variants

Gene:NIPSNAP3A
Variant:p.G79_T83del5

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
1 paper
NM_015469.3
p.G79_T83del5
c.235_248del15
Surrounding Variants
1 paper
NM_015469.3
p.G79_T83delFs
c.237_247del11
1 paper
NM_015469.3
p.R80S
c.240A>C
1 paper
NM_015469.3
p.R80S
c.240A>T
1 paper
NM_015469.3
p.S47*
c.140C>G
1 paper
NM_015469.3
p.R40C
c.118C>T
1 paper
NM_015469.3
p.Y37insFs
c.110dupA
1 paper
NM_015469.3
p.D33N
c.97G>A
1 paper
NM_015469.3
p.Q31*
c.91C>T
1 paper
NM_015469.3
p.T27_G28delFs
c.79_83del5
2 papers
NM_015469.3
p.R96*
c.286C>T
4 papers
NM_015469.3
p.R100Q
c.299G>A
1 paper
NM_015469.3
p.Q124fs
c.370_371fs
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