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

1–12 of 184 variants

42 papers

NM_002353.3

p.Q118*

c.352C>T

19 papers

NM_002353.3

p.S170*

c.509C>G

19 papers

NM_002353.3

p.S170*

c.509C>A

19 papers

NM_002353.3

p.Q207*

c.619C>T

17 papers

NM_002353.3

p.Q211delFs

c.632delT

16 papers

NM_002353.3

p.L186P

c.557T>C

13 papers

NM_002353.3

p.Y184C

c.551A>G

11 papers

NM_002353.3

p.C108R

c.322T>C

11 papers

NM_002353.3

p.C119S

c.355T>A

11 papers

NM_002353.3

p.C119S

c.356G>C

11 papers

NM_002353.3

p.E227K

c.679G>A

10 papers

NM_002353.3

p.D216E

c.648C>G