Varaico: Literature-Extracted Genetic Variants

Gene:RASA4
Variant:p.I11N

RASA4

65 papers

RefSeq Summary

This gene encodes a member of the GAP1 family of GTPase-activating proteins that suppresses the Ras/mitogen-activated protein kinase pathway in response to Ca(2+). Stimuli that increase intracellular ...

Pfam Domains

C2aa 5–107UCSCC2 domain
C2aa 133–234UCSCC2 domain
RasGAPaa 323–512UCSCGTPase-activator protein for Ras-like GTPase
PHaa 567–672UCSCPH domain
BTKaa 681–710UCSCBTK motif

Gene Aliases

HGNC Name

RAS p21 protein activator 4

HGNC Alias Symbols

KIAA0538; CAPRI; GAPL

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_006989.6
p.I11N
c.32T>A
Surrounding Variants
1 paper
NM_006989.6
p.I22Splc
c.65+2T>G
1 paper
NM_006989.6
p.T48A
c.142A>G
1 paper
NM_006989.6
p.K86E
c.256A>G
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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."