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.Q202K

c.604C>A

Surrounding Variants

1 paper

NM_002353.3

p.I201M

c.603C>G

1 paper

NM_002353.3

p.I203I

c.609C>A

1 paper

NM_002353.3

p.E204K

c.610G>A

1 paper

NM_002353.3

p.L205R

c.614T>G

19 papers

NM_002353.3

p.Q207*

c.619C>T

1 paper

NM_002353.3

p.Y196*

c.588C>A

1 paper

NM_002353.3

p.N208delFs

c.623delT

9 papers

NM_002353.3

p.V194E

c.581T>A

1 paper

NM_002353.3

p.S210F

c.629C>T

1 paper

NM_002353.3

p.S210fs

c.628_629fs

2 papers

NM_002353.3

p.Q211fs

c.631_632fs

1 paper

NM_002353.3

p.Q211*

c.631C>T