Varaico: Literature-Extracted Genetic Variants

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

C2aa 213–313UCSCC2 domain

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.E278G

c.833A>G

Surrounding Variants

2 papers

NM_001395010.1

p.K285del1

c.853_855delAAG

1 paper

NM_001395010.1

p.E286fs

c.856_857fs

1 paper

NM_001395010.1

p.L293L

c.877C>T

1 paper

NM_001395010.1

p.H263L

c.788A>T

1 paper

NM_001395010.1

p.L293Q

c.878T>A

1 paper

NM_001395010.1

p.S295T

c.884G>C

1 paper

NM_001395010.1

p.H259_E261delFs

c.776_782del7

1 paper

NM_001395010.1

p.G257del1

c.769_771delGGC

1 paper

NM_001395010.1

p.N253S

c.758A>G

2 papers

NM_001395010.1

p.A243A

c.729C>T

1 paper

NM_001395010.1

p.V240M

c.718G>A

1 paper

NM_001395010.1

p.D239N

c.715G>A