Varaico: Literature-Extracted Genetic Variants

Gene:SIPA1
Variant:p.A920A

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
Selected Variant
5 papers
NM_006747.4
p.A920A
c.2760G>A
Surrounding Variants
1 paper
NM_006747.4
p.T938A
c.2812A>G
1 paper
NM_006747.4
p.T941I
c.2822C>T
1 paper
NM_006747.4
p.S945S
c.2835G>A
1 paper
NM_006747.4
p.P896L
c.2687C>T
1 paper
NM_006747.4
p.P894fs
c.2680_2681fs
1 paper
NM_006747.4
p.D880Y
c.2638G>T
1 paper
NM_006747.4
p.K964E
c.2890A>G
1 paper
NM_006747.4
p.Q879_D880Splc
c.2637+32G>A
1 paper
NM_006747.4
p.T875_P876insG
c.2623_2627ins3
1 paper
NM_006747.4
p.A861V
c.2582C>T
1 paper
NM_006747.4
p.A861insFs
c.2581_2582insTA
1 paper
NM_006747.4
p.A861fs
c.2581_2582fs
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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."