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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:BAIAP2

Variant:p.R11R

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

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

1 paper

chr17:81035287 G>A

NM_001144888.2

p.R11R

c.33G>A

Exome: 0.0% (AC=1, hom=0)Genome: n/a2 overlapping SVs

Surrounding Variants

1 paper

chr17:81035280 T>C

NM_001144888.2

p.M9T

c.26T>C

Exome: 0.0% (AC=20, hom=0)Genome: 0.0% (AC=3, hom=0)2 overlapping SVs

1 paper

chr17:81035304 A>T

NM_001144888.2

p.Y17F

c.50A>T

IMD

Exome: 0.0% (AC=0, hom=0)Genome: n/a2 overlapping SVs

1 paper

chr17:81035260 T>TGGGGGG

NM_001144888.2

p.S2_L3ins2

c.6_7ins6

exact variant not in gnomAD2 overlapping SVs

1 paper

chr17:81035256 T>C

NM_001144888.2

p.M1T

c.2T>C

Exome: 0.0% (AC=0, hom=0)Genome: n/a2 overlapping SVs

1 paper

chr17:81035255 A>G

NM_001144888.2

p.M1V

c.1A>G

Exome: 0.0% (AC=3, hom=0)Genome: n/a2 overlapping SVs

1 paper

chr17:81035353 T>C

NM_001144888.2

p.K18_T19Splc

c.54+45T>C

Exome: 90.6% (AC=981505, hom=444929)Genome: 88.3% (AC=130977, hom=57981)2 overlapping SVs

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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."