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.V280_I281insFs

c.840_841ins20

Surrounding Variants

1 paper

NM_002353.3

p.V280V

c.840C>T

1 paper

NM_002353.3

p.V280_I281insFs

c.840_841ins20

1 paper

NM_002353.3

p.V280_I281ins1

c.840_841insTCA

1 paper

NM_002353.3

p.V280A

c.839T>C

2 papers

NM_002353.3

p.I281fs

c.841_842fs

1 paper

NM_002353.3

p.V283M

c.847G>A

1 paper

NM_002353.3

p.L288L

c.864C>T

3 papers

NM_002353.3

p.R272H

c.815G>A

2 papers

NM_002353.3

p.R272S

c.814C>A

5 papers

NM_002353.3

p.K271delFs

c.811delT

1 paper

NM_002353.3

p.K271fs

c.811_812fs

1 paper

NM_002353.3

p.M270fs

c.808_809fs