Varaico: Literature-Extracted Genetic Variants

Gene:SIPA1
Variant:p.E403K

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.E403K
c.1207G>A
Surrounding Variants
1 paper
NM_006747.4
p.H393D
c.1177C>G
1 paper
NM_006747.4
p.T387M
c.1160C>T
1 paper
NM_006747.4
p.V436A
c.1307T>C
1 paper
NM_006747.4
p.R474Splc
c.1422-5C>T
1 paper
NM_006747.4
p.A501T
c.1501G>A
2 papers
NM_006747.4
p.D502N
c.1504G>A
1 paper
NM_006747.4
p.F503F
c.1509C>T
1 paper
NM_006747.4
p.R504W
c.1510C>T
1 paper
NM_006747.4
p.R504Q
c.1511G>A
1 paper
NM_006747.4
p.R532C
c.1594C>T
1 paper
NM_006747.4
p.T387M
c.1160C>T
1 paper
NM_006747.4
p.R554H
c.1661G>A
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