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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:RAP1GAP2

Variant:p.E133K

RAP1GAP2

46 papers

RefSeq Summary

This gene encodes a GTPase-activating protein that activates the small guanine-nucleotide-binding protein Rap1 in platelets. The protein interacts with synaptotagmin-like protein 1 and Rab27 and regul...

Pfam Domains

Rap-GAP_dimeraa 153–258UCSCRap/Ran-GAP protein dimerization domain

Rap_GAPaa 277–458UCSCRap/ran-GAP

Gene Aliases

HGNC Name

RAP1 GTPase activating protein 2

HGNC Previous Symbol

GARNL4

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

1 paper

chr17:2963973 G>A

NM_015085.5

p.E133K

c.397G>A

exact variant not in gnomAD9 overlapping SVs

Surrounding Variants

1 paper

chr17:2964003 A>T

NM_015085.5

p.T143S

c.427A>T

exact variant not in gnomAD9 overlapping SVs

1 paper

chr17:2963459 C>T

NM_015085.5

p.D92D

c.276C>T

Exome: 0.1% (AC=866, hom=2)Genome: 0.2% (AC=264, hom=1)8 overlapping SVs

1 paper

chr17:2963446 A>T

NM_015085.5

p.Y88F

c.263A>T

exact variant not in gnomAD8 overlapping SVs

1 paper

chr17:2963431 A>C

NM_015085.5

p.D83A

c.248A>C

exact variant not in gnomAD8 overlapping SVs

1 paper

chr17:2962692 A>G

NM_015085.5

p.K75R

c.224A>G

Exome: 0.0% (AC=0, hom=0)Genome: n/a8 overlapping SVs

1 paper

chr17:2962686 A>T

NM_015085.5

p.E73V

c.218A>T

exact variant not in gnomAD8 overlapping SVs

1 paper

chr17:2957789 A>G

NM_015085.5

p.M66V

c.196A>G

Exome: 0.0% (AC=2, hom=0)Genome: n/a8 overlapping SVs

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."