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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:FCER1G

FCER1G

31 papers

RefSeq Summary

The high affinity IgE receptor is a key molecule involved in allergic reactions. It is a tetramer composed of 1 alpha, 1 beta, and 2 gamma chains. The gamma chains are also subunits of other Fc recept...

Pfam Domains

TCR_zetazetaaa 21–51UCSCT-cell surface glycoprotein CD3 zeta chain

ITAMaa 62–81UCSCImmunoreceptor tyrosine-based activation motif

Gene Aliases

HGNC Name

Fc epsilon receptor Ig

HGNC Alias Symbol

FcepsilonRIgamma

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

1–12 of 14 variants

2 papers

chr1:161215334 G>A

NM_004106.2

p.V5M

c.13G>A

Exome: 0.1% (AC=1989, hom=3)Genome: 0.1% (AC=129, hom=1)231 overlapping SVs

2 papers

chr1:161218060 C>T

NM_004106.2

p.L42F

c.124C>T

TCR_zetazeta

exact variant not in gnomAD231 overlapping SVs

2 papers

chr1:161218251 G>A

NM_004106.2

p.R51Q

c.152G>A

TCR_zetazeta

Exome: 0.0% (AC=12, hom=0)Genome: 0.0% (AC=1, hom=0)231 overlapping SVs

1 paper

chr1:161215323 T>C

NM_004106.2

p.M1T

c.2T>C

exact variant not in gnomAD231 overlapping SVs

1 paper

chr1:161215326 T>C

NM_004106.2

p.I2T

c.5T>C

exact variant not in gnomAD231 overlapping SVs

1 paper

chr1:161215371 C>T

NM_004106.2

p.A17V

c.50C>T

exact variant not in gnomAD231 overlapping SVs

1 paper

chr1:161217875 C>T

NM_004106.2

p.A17Splc

c.50-111C>T

Exome: 28.7% (AC=168406, hom=25639)Genome: 30.9% (AC=46840, hom=7602)231 overlapping SVs

1 paper

chr1:161218002 T>C

NM_004106.2

p.P22P

c.66T>C

TCR_zetazeta

exact variant not in gnomAD231 overlapping SVs

1 paper

chr1:161218013 A>G

NM_004106.2

p.Y26C

c.77A>G

TCR_zetazeta

Exome: 0.0% (AC=5, hom=0)Genome: 0.0% (AC=1, hom=0)231 overlapping SVs

1 paper

chr1:161218034 T>G

NM_004106.2

p.F33C

c.98T>G

TCR_zetazeta

exact variant not in gnomAD231 overlapping SVs

1 paper

chr1:161218062 C>T

NM_004106.2

p.L42L

c.126C>T

TCR_zetazeta

exact variant not in gnomAD231 overlapping SVs

1 paper

chr1:161218719 A>T

NM_004106.2

p.Y65F

c.194A>T

ITAM

exact variant not in gnomAD231 overlapping SVs

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