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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CRTAM

Variant:p.I122T

CRTAM

24 papers

RefSeq Summary

The CRTAM gene is upregulated in CD4 (see MIM 186940)-positive and CD8 (see CD8A; MIM 186910)-positive T cells and encodes a type I transmembrane protein with V and C1-like Ig domains (Yeh et al., 200...

Pfam Domains

V-setaa 21–115UCSCImmunoglobulin V-set domain

C2-set_2aa 121–207UCSCCD80-like C2-set immunoglobulin domain

Gene Aliases

HGNC Name

cytotoxic and regulatory T cell molecule

HGNC Alias Symbol

CD355

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

1 paper

chr11:122853961 T>C

NM_019604.4

p.I122T

c.365T>C

C2-set_2

Exome: 0.0% (AC=13, hom=0)Genome: 0.0% (AC=1, hom=0)12 overlapping SVs

Surrounding Variants

1 paper

chr11:122854036 A>G

NM_019604.4

p.K147R

c.440A>G

C2-set_2

Exome: 0.0% (AC=7, hom=0)Genome: n/a12 overlapping SVs

1 paper

chr11:122855701 C>T

NM_019604.4

p.T166M

c.497C>T

C2-set_2

Exome: 0.0% (AC=57, hom=0)Genome: 0.0% (AC=3, hom=0)12 overlapping SVs

1 paper

chr11:122855722 A>G

NM_019604.4

p.D173G

c.518A>G

C2-set_2

Exome: 0.2% (AC=2198, hom=67)Genome: 1.4% (AC=2093, hom=59)12 overlapping SVs

1 paper

chr11:122855842 G>A

NM_019604.4

p.R213Q

c.638G>A

Exome: 0.0% (AC=31, hom=0)Genome: 0.0% (AC=5, hom=0)12 overlapping SVs

1 paper

chr11:122851845 G>A

NM_019604.4

p.A116T

c.346G>A

exact variant not in gnomAD12 overlapping SVs

1 paper

chr11:122851731 G>GTGAAGGAAGGAAGGAAGGAA

NM_019604.4

p.A78insFs

c.232_233ins20

V-set

exact variant not in gnomAD12 overlapping SVs

1 paper

chr11:122850190 A>G

NM_019604.4

p.T57A

c.169A>G

V-set

Exome: 0.0% (AC=2, hom=0)Genome: n/a12 overlapping SVs

1 paper

chr11:122850119 C>T

NM_019604.4

p.T33M

c.98C>T

V-set

Exome: 0.0% (AC=21, hom=0)Genome: 0.0% (AC=6, hom=0)12 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."