Varaico: Literature-Extracted Genetic Variants

Gene:RAP1GAP2
Variant:p.K55_S56Splc

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
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_015085.5
p.K55_S56Splc
c.165+17C>G
Surrounding Variants
1 paper
NM_015085.5
p.P47R
c.140C>G
1 paper
NM_015085.5
p.P40S
c.118C>T
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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."