Varaico: Literature-Extracted Genetic Variants

Gene:RAP1GAP
Variant:p.T457P

RAP1GAP

81 papers

RefSeq Summary

This gene encodes a type of GTPase-activating-protein (GAP) that down-regulates the activity of the ras-related RAP1 protein. RAP1 acts as a molecular switch by cycling between an inactive GDP-bound f...

Pfam Domains

GoLocoaa 1–17UCSCGoLoco motif
Rap-GAP_dimeraa 86–192UCSCRap/Ran-GAP protein dimerization domain
Rap_GAPaa 210–391UCSCRap/ran-GAP

Gene Aliases

HGNC Name

RAP1 GTPase activating protein

HGNC Previous Symbol

RAP1GA1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_002885.4
p.T457P
c.1369A>C
Surrounding Variants
1 paper
NM_002885.4
p.G461R
c.1381G>C
1 paper
NM_002885.4
p.G461R
c.1381G>A
1 paper
NM_002885.4
p.K450N
c.1350G>T
1 paper
NM_002885.4
p.K450N
c.1350G>C
1 paper
NM_002885.4
p.A464P
c.1390G>C
1 paper
NM_002885.4
p.G446A
c.1337G>C
1 paper
NM_002885.4
p.G446E
c.1337G>A
1 paper
NM_002885.4
p.S441A
c.1321T>G
1 paper
NM_002885.4
p.R436W
c.1306C>T
1 paper
NM_002885.4
p.R433Q
c.1298G>A
1 paper
NM_002885.4
p.G425fs
c.1273_1274fs
1 paper
NM_002885.4
p.G425delFs
c.1274delC
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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."