Varaico: Literature-Extracted Genetic Variants

Gene:SIPA1

SIPA1

91 papers

RefSeq Summary

The product of this gene is a mitogen induced GTPase activating protein (GAP). It exhibits a specific GAP activity for Ras-related regulatory proteins Rap1 and Rap2, but not for Ran or other small GTP...

Pfam Domains

Rap-GAP_dimeraa 215–330UCSCRap/Ran-GAP protein dimerization domain
Rap_GAPaa 350–533UCSCRap/ran-GAP
PDZaa 687–759UCSCPDZ domain

Gene Aliases

HGNC Name

signal-induced proliferation-associated 1

Papers
RefSeq ID
Protein change
DNA change
1–12 of 90 variants
10 papers
NM_006747.4
p.S182F
c.545C>T
5 papers
NM_006747.4
p.A920A
c.2760G>A
2 papers
NM_006747.4
p.T64M
c.191C>T
2 papers
NM_006747.4
p.D502N
c.1504G>A
2 papers
NM_006747.4
p.D625N
c.1873G>A
2 papers
NM_006747.4
p.T799N
c.2396C>A
1 paper
NM_006747.4
p.P2S
c.4C>T
1 paper
NM_006747.4
p.M3ins2
c.8_9ins6
1 paper
NM_006747.4
p.W4_A5insFs
c.12_13ins4
1 paper
NM_006747.4
p.A5V
c.14C>T
1 paper
NM_006747.4
p.G6_G7ins3
c.18_19ins9
1 paper
NM_006747.4
p.R13W
c.37C>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."