Varaico: Literature-Extracted Genetic Variants

TACSTD2

112 papers

RefSeq Summary

This intronless gene encodes a carcinoma-associated antigen. This antigen is a cell surface receptor that transduces calcium signals. Mutations of this gene have been associated with gelatinous drop-l...

Pfam Domains

EpCAM_Naa 34–72UCSCEpithelial cell adhesion molecule, N-terminal domain

Thyroglobulin_1aa 78–145UCSCThyroglobulin type-1 repeat

EPCAM-Trop-2_Caa 151–262UCSCEPCAM/Trop-2, C-terminal

Gene Aliases

HGNC Name

tumor associated calcium signal transducer 2

HGNC Previous Symbol

M1S1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_002353.3

p.F236L

c.708C>G

Surrounding Variants

2 papers

NM_002353.3

p.G232D

c.695G>A

1 paper

NM_002353.3

p.I230M

c.690C>G

1 paper

NM_002353.3

p.R228G

c.682A>G

11 papers

NM_002353.3

p.E227K

c.679G>A

3 papers

NM_002353.3

p.Y225*

c.675C>G

1 paper

NM_002353.3

p.R247fs

c.739_740fs

3 papers

NM_002353.3

p.Y225*

c.675C>A

1 paper

NM_002353.3

p.R247delFs

c.740delC

1 paper

NM_002353.3

p.E249_P250insC

c.745_749ins3

1 paper

NM_002353.3

p.E249A

c.746A>C

1 paper

NM_002353.3

p.D221E

c.663T>G

1 paper

NM_002353.3

p.D221E

c.663T>A