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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:GAB1

Variant:p.K20K

GAB1

173 papers

RefSeq Summary

The protein encoded by this gene is a member of the IRS1-like multisubstrate docking protein family. It is an important mediator of branching tubulogenesis and plays a central role in cellular growth ...

Pfam Domains

PHaa 6–116UCSCPH domain

Gene Aliases

HGNC Name

GRB2 associated binding protein 1

HGNC Previous Symbol

DFNB26

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

3 papers

chr4:143337248 G>A

NM_002039.4

p.K20K

c.60G>A

exact variant not in gnomAD68 overlapping SVs

Surrounding Variants

1 paper

chr4:143337240 GAG>N

NM_002039.4

p.E18fs

c.52_53fs

exact variant not in gnomAD68 overlapping SVs

1 paper

chr4:143337259 A>T

NM_002039.4

p.Y24F

c.71A>T

Exome: 0.0% (AC=1, hom=0)Genome: n/a68 overlapping SVs

1 paper

chr4:143337231 T>TC

NM_002039.4

p.S15Fs

c.43delinsTCFs

Exome: 0.0% (AC=7, hom=0)Genome: 0.0% (AC=1, hom=0)68 overlapping SVs

1 paper

chr4:143337229 A>G

NM_002039.4

p.K14R

c.41A>G

exact variant not in gnomAD68 overlapping SVs

1 paper

chr4:143337194 C>G

NM_002039.4

p.S2R

c.6C>G

Exome: 0.0% (AC=7, hom=0)Genome: 0.0% (AC=2, hom=0)68 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."