Varaico: Literature-Extracted Genetic Variants

Gene:DAB2IP
Variant:p.R74Q

DAB2IP

122 papers

RefSeq Summary

DAB2IP is a Ras (MIM 190020) GTPase-activating protein (GAP) that acts as a tumor suppressor. The DAB2IP gene is inactivated by methylation in prostate and breast cancers (Yano et al., 2005 [PubMed 15...

Pfam Domains

PH_RASGAPaa 70–201UCSCPH domain-like
PH_RASGAPaa 70–201UCSCPH domain-like
C2aa 213–313UCSCC2 domain
C2aa 213–313UCSCC2 domain
RasGAPaa 392–469UCSCGTPase-activator protein for Ras-like GTPase
RasGAPaa 392–469UCSCGTPase-activator protein for Ras-like GTPase

Gene Aliases

HGNC Name

DAB2 interacting protein

HGNC Alias Symbols

AF9Q34; DIP1/2; KIAA1743; AIP1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001395010.1
p.R74Q
c.221G>A
Surrounding Variants
1 paper
NM_001395010.1
p.P72fs
c.214_215fs
1 paper
NM_001395010.1
p.M65delFs
c.195delG
2 papers
NM_001395010.1
p.P55T
c.163C>A
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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."