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.G6delins

c.16delinsGGCCGGCCGG

Surrounding Variants

1 paper

NM_002353.3

p.P5_G6delFs

c.15_16delCG

1 paper

NM_002353.3

p.P5_G6insFs

c.15_16ins10

1 paper

NM_002353.3

p.P11S

c.31C>T

1 paper

NM_002353.3

p.R3R

c.7C>A

1 paper

NM_002353.3

p.L12L

c.34C>T

9 papers

NM_002353.3

p.M1R

c.2T>G

1 paper

NM_002353.3

p.G6_L14delFs

c.16_40del25

1 paper

NM_002353.3

p.P15_L16ins10

c.43_47ins30

1 paper

NM_002353.3

p.L16L

c.48G>A

1 paper

NM_002353.3

p.L18L

c.52C>T

1 paper

NM_002353.3

p.L17delFs

c.51delC

1 paper

NM_002353.3

p.L19V

c.55C>G