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.E182delFs

c.545delT

Surrounding Variants

13 papers

NM_002353.3

p.Y184C

c.551A>G

16 papers

NM_002353.3

p.L186P

c.557T>C

1 paper

NM_002353.3

p.R177K

c.530G>A

1 paper

NM_002353.3

p.P188fs

c.562_563fs

2 papers

NM_002353.3

p.K189fs

c.565_566fs

5 papers

NM_002353.3

p.P188delFs

c.564delG

2 papers

NM_002353.3

p.A174insFs

c.521_522insC

1 paper

NM_002353.3

p.E175fs

c.523_524fs

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.V191_A192insFs

c.573_574insC

6 papers

NM_002353.3

p.D173A

c.518A>C