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

19 papers

NM_002353.3

p.S170*

c.509C>A

Surrounding Variants

19 papers

NM_002353.3

p.S170*

c.509C>G

1 paper

NM_002353.3

p.L172L

c.516G>C

6 papers

NM_002353.3

p.D173A

c.518A>C

4 papers

NM_002353.3

p.D173insFs

c.519dupC

1 paper

NM_002353.3

p.A174fs

c.520_521fs

1 paper

NM_002353.3

p.A166T

c.496G>A

2 papers

NM_002353.3

p.A174insFs

c.521_522insC

1 paper

NM_002353.3

p.E175fs

c.523_524fs

1 paper

NM_002353.3

p.G165G

c.495C>T

1 paper

NM_002353.3

p.G165G

c.495C>G

1 paper

NM_002353.3

p.G165delins

c.494_495delinsCT

1 paper

NM_002353.3

p.G165A

c.494G>C