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.I297V

c.889A>G

Surrounding Variants

1 paper

NM_002353.3

p.A293_I297del0

c.878_889del12

1 paper

NM_002353.3

p.V296V

c.888G>C

1 paper

NM_002353.3

p.V296E

c.887T>A

1 paper

NM_002353.3

p.V294I

c.880G>A

3 papers

NM_002353.3

p.R300Q

c.899G>A

1 paper

NM_002353.3

p.M292L

c.874A>C

3 papers

NM_002353.3

p.A290delFs

c.870delG

1 paper

NM_002353.3

p.L288L

c.864C>T

1 paper

NM_002353.3

p.V309L

c.925G>T

1 paper

NM_002353.3

p.E310insFs

c.929dupA

1 paper

NM_002353.3

p.V283M

c.847G>A

2 papers

NM_002353.3

p.I281fs

c.841_842fs