Varaico: Literature-Extracted Genetic Variants

Gene:SIPA1
Variant:p.P130R

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
1 paper
NM_006747.4
p.P130R
c.389C>G
Surrounding Variants
1 paper
NM_006747.4
p.Y119F
c.356A>T
1 paper
NM_006747.4
p.A106S
c.316G>T
1 paper
NM_006747.4
p.A100A
c.300A>G
1 paper
NM_006747.4
p.P92P
c.276G>A
1 paper
NM_006747.4
p.T90fs
c.268_269fs
1 paper
NM_006747.4
p.L88F
c.262C>T
1 paper
NM_006747.4
p.G178R
c.532G>C
1 paper
NM_006747.4
p.P81R
c.242C>G
10 papers
NM_006747.4
p.S182F
c.545C>T
1 paper
NM_006747.4
p.P190fs
c.568_569fs
2 papers
NM_006747.4
p.T64M
c.191C>T
1 paper
NM_006747.4
p.P63T
c.187C>A
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