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.Q118R

c.353A>G

Surrounding Variants

3 papers

NM_002353.3

p.Q118H

c.354G>T

1 paper

NM_002353.3

p.Q118fs

c.352_353fs

3 papers

NM_002353.3

p.Q118H

c.354G>C

42 papers

NM_002353.3

p.Q118*

c.352C>T

8 papers

NM_002353.3

p.Q118E

c.352C>G

11 papers

NM_002353.3

p.C119S

c.355T>A

11 papers

NM_002353.3

p.C119S

c.356G>C

4 papers

NM_002353.3

p.C119Y

c.356G>A

1 paper

NM_002353.3

p.Q121E

c.361C>G

1 paper

NM_002353.3

p.Q121H

c.363G>T

1 paper

NM_002353.3

p.Q121H

c.363G>C

6 papers

NM_002353.3

p.F114C

c.341T>G