Varaico: Literature-Extracted Genetic Variants

Gene:SIPA1
Variant:p.A5V

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.A5V
c.14C>T
Surrounding Variants
1 paper
NM_006747.4
p.W4_A5insFs
c.12_13ins4
1 paper
NM_006747.4
p.G6_G7ins3
c.18_19ins9
1 paper
NM_006747.4
p.M3ins2
c.8_9ins6
1 paper
NM_006747.4
p.P2S
c.4C>T
1 paper
NM_006747.4
p.R13W
c.37C>T
1 paper
NM_006747.4
p.M15L
c.43A>C
1 paper
NM_006747.4
p.M15L
c.43A>T
1 paper
NM_006747.4
p.A18V
c.53C>T
1 paper
NM_006747.4
p.R26ins6
c.76_77ins18
1 paper
NM_006747.4
p.R47W
c.139C>T
1 paper
NM_006747.4
p.P63T
c.187C>A
2 papers
NM_006747.4
p.T64M
c.191C>T
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