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

2 papers

NM_002353.3

p.A213V

c.638C>T

Surrounding Variants

2 papers

NM_002353.3

p.A213T

c.637G>A

1 paper

NM_002353.3

p.A214S

c.640G>T

1 paper

NM_002353.3

p.A214T

c.640G>A

17 papers

NM_002353.3

p.Q211delFs

c.632delT

2 papers

NM_002353.3

p.Q211fs

c.631_632fs

1 paper

NM_002353.3

p.Q211*

c.631C>T

1 paper

NM_002353.3

p.S210fs

c.628_629fs

1 paper

NM_002353.3

p.S210F

c.629C>T

10 papers

NM_002353.3

p.D216E

c.648C>G

10 papers

NM_002353.3

p.D216E

c.648C>A

1 paper

NM_002353.3

p.V217M

c.649G>A

1 paper

NM_002353.3

p.V217fs

c.649_650fs