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.K267fs

c.799_800fs

Surrounding Variants

2 papers

NM_002353.3

p.P266delFs

c.798delC

2 papers

NM_002353.3

p.P266L

c.797C>T

1 paper

NM_002353.3

p.M270fs

c.808_809fs

2 papers

NM_002353.3

p.E263K

c.787G>A

1 paper

NM_002353.3

p.K271fs

c.811_812fs

5 papers

NM_002353.3

p.K271delFs

c.811delT

2 papers

NM_002353.3

p.I258_L261del0

c.772_783del12

2 papers

NM_002353.3

p.R272S

c.814C>A

3 papers

NM_002353.3

p.R272H

c.815G>A

3 papers

NM_002353.3

p.I258_L261Fs

c.772_783delinsTFs

1 paper

NM_002353.3

p.I258insFs

c.773_774insT

1 paper

NM_002353.3

p.I258fs

c.772_773fs