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.L58L

c.172C>T

Surrounding Variants

2 papers

NM_002353.3

p.M62fs

c.184_185fs

2 papers

NM_002353.3

p.M62delFs

c.185delA

1 paper

NM_002353.3

p.R52H

c.155G>A

1 paper

NM_002353.3

p.G50V

c.149G>T

7 papers

NM_002353.3

p.C66*

c.198C>A

1 paper

NM_002353.3

p.C66delFs

c.198delG

1 paper

NM_002353.3

p.D47delFs

c.140delT

1 paper

NM_002353.3

p.S71C

c.212C>G

1 paper

NM_002353.3

p.N39K

c.117C>G

1 paper

NM_002353.3

p.N39K

c.117C>A

1 paper

NM_002353.3

p.K77N

c.231G>C

1 paper

NM_002353.3

p.K77K

c.231G>A