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

9 papers

NM_002353.3

p.V194E

c.581T>A

Surrounding Variants

1 paper

NM_002353.3

p.A192fs

c.574_575fs

1 paper

NM_002353.3

p.Y196*

c.588C>A

1 paper

NM_002353.3

p.V191_A192insFs

c.573_574insC

2 papers

NM_002353.3

p.K189fs

c.565_566fs

5 papers

NM_002353.3

p.P188delFs

c.564delG

1 paper

NM_002353.3

p.P188fs

c.562_563fs

1 paper

NM_002353.3

p.I201M

c.603C>G

1 paper

NM_002353.3

p.Q202K

c.604C>A

16 papers

NM_002353.3

p.L186P

c.557T>C

1 paper

NM_002353.3

p.I203I

c.609C>A

1 paper

NM_002353.3

p.E204K

c.610G>A

13 papers

NM_002353.3

p.Y184C

c.551A>G