Varaico: Literature-Extracted Genetic Variants

Gene:BAIAP2
Variant:p.K130E

BAIAP2

90 papers

RefSeq Summary

The protein encoded by this gene has been identified as a brain-specific angiogenesis inhibitor (BAI1)-binding protein. This adaptor protein links membrane bound G-proteins to cytoplasmic effector pro...

Pfam Domains

IMDaa 17–237UCSCIRSp53/MIM homology domain
SH3_2aa 378–435UCSCVariant SH3 domain

Gene Aliases

HGNC Name

BAR/IMD domain containing adaptor protein 2

HGNC Alias Symbols

BAP2; IRSp53; WAML

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001144888.2
p.K130E
c.388A>G
Surrounding Variants
1 paper
NM_001144888.2
p.K130N
c.390A>T
1 paper
NM_001144888.2
p.D132D
c.396C>T
1 paper
NM_001144888.2
p.L134P
c.401T>C
1 paper
NM_001144888.2
p.Q124H
c.372G>C
1 paper
NM_001144888.2
p.L120insFs
c.358_359insG
1 paper
NM_001144888.2
p.A119insFs
c.355_356insC
2 papers
NM_001144888.2
p.K142E
c.424A>G
2 papers
NM_001144888.2
p.K143E
c.427A>G
1 paper
NM_001144888.2
p.L144H
c.431T>A
2 papers
NM_001144888.2
p.K146E
c.436A>G
2 papers
NM_001144888.2
p.K147E
c.439A>G
1 paper
NM_001144888.2
p.Y115F
c.344A>T
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