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.G165fs

c.493_494fs

Surrounding Variants

1 paper

NM_002353.3

p.A164_G165insFs

c.492_493insC

4 papers

NM_002353.3

p.G165insFs

c.493_494ins8

1 paper

NM_002353.3

p.A164_G165insFs

c.492_493ins8

1 paper

NM_002353.3

p.G165A

c.494G>C

1 paper

NM_002353.3

p.G165D

c.494G>A

1 paper

NM_002353.3

p.A164fs

c.490_491fs

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.A166T

c.496G>A

1 paper

NM_002353.3

p.P162A

c.484C>G

1 paper

NM_002353.3

p.R161fs

c.481_482fs