Varaico: Literature-Extracted Genetic Variants

TGFBR1

763 papers

RefSeq Summary

The protein encoded by this gene forms a heteromeric complex with type II TGF-beta receptors when bound to TGF-beta, transducing the TGF-beta signal from the cell surface to the cytoplasm. The encoded...

Pfam Domains

Activin_recpaa 1–44UCSCActivin types I and II receptor domain

Activin_recpaa 33–113UCSCActivin types I and II receptor domain

TGF_beta_GSaa 107–134UCSCTransforming growth factor beta type I GS-motif

Pkinaseaa 136–423UCSCProtein kinase domain

Gene Aliases

HGNC Name

transforming growth factor beta receptor 1

HGNC Previous Symbols

MSSE; ESS1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

13 papers

NM_004612.4

p.T200I

c.599C>T

Surrounding Variants

1 paper

NM_004612.4

p.T200K

c.599C>A

3 papers

NM_004612.4

p.T200P

c.598A>C

1 paper

NM_004612.4

p.T200T

c.600A>C

1 paper

NM_004612.4

p.I201V

c.601A>G

1 paper

NM_004612.4

p.I201M

c.603T>G

1 paper

NM_004612.4

p.A202T

c.604G>A

1 paper

NM_004612.4

p.A202_Q208delFs

c.605_623del19

1 paper

NM_004612.4

p.A202ins4

c.605_606ins12

9 papers

NM_004612.4

p.A202V

c.605C>T

1 paper

NM_004612.4

p.Q198insFs

c.593dupA

1 paper

NM_004612.4

p.T204P

c.610A>C

1 paper

NM_004612.4

p.T204I

c.611C>T