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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:GAREM1

Variant:p.Y74C

GAREM1

39 papers

RefSeq Summary

This gene encodes an adaptor protein which functions in the epidermal growth factor (EGF) receptor-mediated signaling pathway. Multiple transcript variants encoding different isoforms have been found ...

Pfam Domains

CABITaa 32–316UCSCCell-cycle sustaining, positive selection,

Gene Aliases

HGNC Name

GRB2 associated regulator of MAPK1 subtype 1

HGNC Previous Symbols

C18orf11; FAM59A

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

1 paper

chr18:32392936 T>C

NM_001242409.2

p.Y74C

c.221A>G

CABIT

Exome: 0.0% (AC=2, hom=0)Genome: n/a6 overlapping SVs

Surrounding Variants

1 paper

chr18:32392927 C>T

NM_001242409.2

p.G77E

c.230G>A

CABIT

Exome: 0.0% (AC=1, hom=0)Genome: n/a6 overlapping SVs

1 paper

chr18:32392951 A>T

NM_001242409.2

p.L69*

c.206T>A

CABIT

exact variant not in gnomAD6 overlapping SVs

1 paper

chr18:32393014 C>T

NM_001242409.2

p.R48Q

c.143G>A

CABIT

Exome: 0.0% (AC=90, hom=0)Genome: 0.0% (AC=13, hom=0)6 overlapping SVs

1 paper

chr18:32393033 C>T

NM_001242409.2

p.E42K

c.124G>A

CABIT

exact variant not in gnomAD6 overlapping SVs

1 paper

chr18:32401563 G>A

NM_001242409.2

p.G41Splc

c.122-8528C>T

Exome: n/aGenome: 7.7% (AC=11604, hom=620)8 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."