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

8 papers

NM_002353.3

p.K84*

c.250A>T

Surrounding Variants

2 papers

NM_002353.3

p.K84fs

c.250_251fs

2 papers

NM_002353.3

p.P83_K84insFs

c.249_250insC

1 paper

NM_002353.3

p.K77N

c.231G>C

1 paper

NM_002353.3

p.K77K

c.231G>A

1 paper

NM_002353.3

p.R91W

c.271C>T

1 paper

NM_002353.3

p.S93N

c.278G>A

1 paper

NM_002353.3

p.A96T

c.286G>A

1 paper

NM_002353.3

p.S71C

c.212C>G

1 paper

NM_002353.3

p.C66delFs

c.198delG

7 papers

NM_002353.3

p.C66*

c.198C>A

1 paper

NM_002353.3

p.E94_N100del7

c.280_299del21

1 paper

NM_002353.3

p.G102D

c.305G>A