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

11 papers

NM_002353.3

p.C108R

c.322T>C

Surrounding Variants

2 papers

NM_002353.3

p.E111*

c.331G>T

1 paper

NM_002353.3

p.L103R

c.308T>G

1 paper

NM_002353.3

p.G102delFs

c.306delG

1 paper

NM_002353.3

p.G102D

c.305G>A

6 papers

NM_002353.3

p.F114C

c.341T>G

1 paper

NM_002353.3

p.E94_N100del7

c.280_299del21

42 papers

NM_002353.3

p.Q118*

c.352C>T

8 papers

NM_002353.3

p.Q118E

c.352C>G

1 paper

NM_002353.3

p.Q118R

c.353A>G

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