Varaico: Literature-Extracted Genetic Variants

Gene:ADAP2
Variant:p.I42V

ADAP2

25 papers

RefSeq Summary

The protein encoded by this gene binds beta-tubulin and increases the stability of microtubules. The encoded protein can also translocate to the cell membrane and bind phosphatidylinositol 3,4,5-trisp...

Pfam Domains

ArfGapaa 8–126UCSCPutative GTPase activating protein for Arf
PHaa 133–232UCSCPH domain
PHaa 256–361UCSCPH domain

Gene Aliases

HGNC Name

ArfGAP with dual PH domains 2

HGNC Previous Symbol

CENTA2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_018404.3
p.I42V
c.124A>G
Surrounding Variants
1 paper
NM_018404.3
p.L46L
c.138C>G
1 paper
NM_018404.3
p.D34Y
c.100G>T
1 paper
NM_018404.3
p.H52delFs
c.154delC
1 paper
NM_018404.3
p.H52fs
c.154_155fs
2 papers
NM_018404.3
p.S59N
c.176G>A
1 paper
NM_018404.3
p.S63S
c.189T>A
1 paper
NM_018404.3
p.G29R
c.85G>A
1 paper
NM_018404.3
p.G29R
c.85G>C
1 paper
NM_018404.3
p.E5Q
c.13G>C
1 paper
NM_018404.3
p.L83F
c.247C>T
1 paper
NM_018404.3
p.F89L
c.265T>C
1 paper
NM_018404.3
p.F89L
c.267C>A
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