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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ABI3

ABI3

60 papers

RefSeq Summary

This gene encodes a member of an adaptor protein family. Members of this family encode proteins containing a homeobox homology domain, proline rich region and Src-homology 3 (SH3) domain, and are comp...

Pfam Domains

ABIaa 5–79UCSCAbl interactor protein

Abi_HHRaa 93–165UCSCAbl-interactor HHR

SH3_9aa 315–363UCSCVariant SH3 domain

Gene Aliases

HGNC Name

ABI family member 3

HGNC Alias Symbols

NESH; SSH3BP3

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

1–12 of 34 variants

6 papers

chr17:49219935 T>C

NM_016428.3

p.F209S

c.626T>C

Exome: 99.1% (AC=1385993, hom=686769)Genome: 99.4% (AC=151451, hom=75294)19 overlapping SVs

5 papers

chr17:49216544 G>A

NM_016428.3

p.R44Q

c.131G>A

ABI

Exome: 6.7% (AC=95594, hom=4659)Genome: 6.1% (AC=9338, hom=520)19 overlapping SVs

3 papers

chr17:49217800 A>G

NM_016428.3

p.Q116R

c.347A>G

Abi_HHR

Exome: 0.1% (AC=2061, hom=3)Genome: 0.1% (AC=128, hom=0)19 overlapping SVs

2 papers

chr17:49210775 G>C

NM_016428.3

p.E17D

c.51G>C

ABI

exact variant not in gnomAD17 overlapping SVs

2 papers

chr17:49210775 G>T

NM_016428.3

p.E17D

c.51G>T

ABI

Exome: 0.0% (AC=262, hom=1)Genome: 0.0% (AC=36, hom=0)17 overlapping SVs

1 paper

chr17:49210726 T>TG

NM_016428.3

p.M1_A2insFs

c.3_4insG

exact variant not in gnomAD17 overlapping SVs

1 paper

chr17:49216534 A>C

NM_016428.3

p.T41P

c.121A>C

ABI

Exome: 0.0% (AC=1, hom=0)Genome: n/a19 overlapping SVs

1 paper

chr17:49216543 C>T

NM_016428.3

p.R44W

c.130C>T

ABI

Exome: 0.0% (AC=155, hom=0)Genome: 0.0% (AC=6, hom=0)19 overlapping SVs

1 paper

chr17:49216545 G>T

NM_016428.3

p.R44R

c.132G>T

ABI

exact variant not in gnomAD19 overlapping SVs

1 paper

chr17:49216572 C>T

NM_016428.3

p.F53F

c.159C>T

ABI

Exome: 0.0% (AC=2, hom=0)Genome: 0.0% (AC=4, hom=0)19 overlapping SVs

1 paper

chr17:49216577 C>T

NM_016428.3

p.T55I

c.164C>T

ABI

Exome: 0.0% (AC=4, hom=0)Genome: 0.0% (AC=2, hom=0)19 overlapping SVs

1 paper

chr17:49216627 A>G

NM_016428.3

p.T72A

c.214A>G

ABI

exact variant not in gnomAD19 overlapping SVs

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