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

3 papers

NM_002353.3

p.Y225*

c.675C>G

Surrounding Variants

3 papers

NM_002353.3

p.Y225*

c.675C>A

11 papers

NM_002353.3

p.E227K

c.679G>A

1 paper

NM_002353.3

p.R228G

c.682A>G

1 paper

NM_002353.3

p.D221E

c.663T>G

1 paper

NM_002353.3

p.D221E

c.663T>A

1 paper

NM_002353.3

p.D221Y

c.661G>T

1 paper

NM_002353.3

p.I230M

c.690C>G

1 paper

NM_002353.3

p.I219ins1

c.656_657insCTG

2 papers

NM_002353.3

p.G232D

c.695G>A

1 paper

NM_002353.3

p.D218fs

c.652_653fs

9 papers

NM_002353.3

p.D218delFs

c.653delT

2 papers

NM_002353.3

p.D218fs

c.652_653fs