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

1 paper

NM_004612.4

p.E110V

c.329A>T

Surrounding Variants

1 paper

NM_004612.4

p.E110E

c.330A>G

1 paper

NM_004612.4

p.I109fs

c.325_326fs

1 paper

NM_004612.4

p.I109V

c.325A>G

1 paper

NM_004612.4

p.K108R

c.323A>G

1 paper

NM_004612.4

p.P112L

c.335C>T

1 paper

NM_004612.4

p.K108E

c.322A>G

1 paper

NM_004612.4

p.T113I

c.338C>T

1 paper

NM_004612.4

p.N107D

c.319A>G

1 paper

NM_004612.4

p.T114_V115insA

c.340_344ins3

1 paper

NM_004612.4

p.T114S

c.340A>T

1 paper

NM_004612.4

p.T114N

c.341C>A

1 paper

NM_004612.4

p.T114S

c.341C>G