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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:NIPSNAP3B

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

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

1–12 of 49 variants

5 papers

chr9:104768871 G>C

NM_018376.4

p.A94P

c.280G>C

NIPSNAP

Exome: 19.9% (AC=287115, hom=29721)Genome: 15.3% (AC=23328, hom=2232)20 overlapping SVs

4 papers

chr9:104770878 A>G

NM_018376.4

p.K154E

c.460A>G

NIPSNAP

Exome: 1.2% (AC=17557, hom=1193)Genome: 2.4% (AC=3730, hom=169)19 overlapping SVs

4 papers

chr9:104770894 C>G

NM_018376.4

p.A159G

c.476C>G

NIPSNAP

Exome: 19.9% (AC=291363, hom=30158)Genome: 15.3% (AC=23240, hom=2223)19 overlapping SVs

2 papers

chr9:104766433 A>G

NM_018376.4

p.K57E

c.169A>G

NIPSNAP

Exome: 0.0% (AC=37, hom=0)Genome: 0.0% (AC=2, hom=0)19 overlapping SVs

1 paper

chr9:104764260 G>C

NM_018376.4

p.G7A

c.20G>C

exact variant not in gnomAD19 overlapping SVs

1 paper

chr9:104764269 A>G

NM_018376.4

p.K10R

c.29A>G

Exome: 0.0% (AC=7, hom=0)Genome: n/a19 overlapping SVs

1 paper

chr9:104766325 G>A

NM_018376.4

p.V21M

c.61G>A

exact variant not in gnomAD19 overlapping SVs

1 paper

chr9:104766344 C>T

NM_018376.4

p.T27M

c.80C>T

Exome: 0.0% (AC=12, hom=0)Genome: 0.0% (AC=3, hom=0)19 overlapping SVs

1 paper

chr9:104766382 C>T

NM_018376.4

p.R40C

c.118C>T

NIPSNAP

Exome: 0.0% (AC=317, hom=1)Genome: 0.1% (AC=192, hom=0)19 overlapping SVs

1 paper

chr9:104766383 G>A

NM_018376.4

p.R40H

c.119G>A

NIPSNAP

Exome: 0.0% (AC=116, hom=0)Genome: 0.0% (AC=15, hom=0)19 overlapping SVs

1 paper

chr9:104766385 A>G

NM_018376.4

p.T41A

c.121A>G

NIPSNAP

Exome: 0.0% (AC=1, hom=0)Genome: n/a19 overlapping SVs

1 paper

chr9:104766385 A>T

NM_018376.4

p.T41S

c.121A>T

NIPSNAP

exact variant not in gnomAD19 overlapping SVs

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