Varaico: Literature-Extracted Genetic Variants

TNS1

650 papers

RefSeq Summary

The protein encoded by this gene localizes to focal adhesions, regions of the plasma membrane where the cell attaches to the extracellular matrix. This protein crosslinks actin filaments and contains ...

Pfam Domains

C1_1aa 21–70UCSCPhorbol esters/diacylglycerol binding domain (C1 domain)

PTEN_C2aa 179–306UCSCC2 domain of PTEN tumour-suppressor protein

SH2aa 1567–1661UCSCSH2 domain

PTBaa 1702–1838UCSCPhosphotyrosine-binding domain

Gene Aliases

HGNC Name

tensin 1

HGNC Previous Symbol

MXRA6

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

4 papers

NM_001387777.1

p.E545A

c.1634A>C

Surrounding Variants

7 papers

NM_001387777.1

p.E545G

c.1634A>G

2 papers

NM_001387777.1

p.E545D

c.1635G>T

1 paper

NM_001387777.1

p.E545*

c.1633G>T

2 papers

NM_001387777.1

p.E545D

c.1635G>C

2 papers

NM_001387777.1

p.E545Q

c.1633G>C

35 papers

NM_001387777.1

p.E545K

c.1633G>A

1 paper

NM_001387777.1

p.P546S

c.1636C>T

1 paper

NM_001387777.1

p.V547_P548insFs

c.1641_1642insG

1 paper

NM_001387777.1

p.T543S

c.1627A>T

2 papers

NM_001387777.1

p.K542R

c.1625A>G

1 paper

NM_001387777.1

p.D541E

c.1623C>G

1 paper

NM_001387777.1

p.D541E

c.1623C>A