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.Q250delFs

c.750delA

Surrounding Variants

1 paper

NM_004612.4

p.Q250_V252delFs

c.748_755del8

1 paper

NM_004612.4

p.Y249D

c.745T>G

1 paper

NM_004612.4

p.T251I

c.752C>T

1 paper

NM_004612.4

p.M253V

c.757A>G

1 paper

NM_004612.4

p.E247K

c.739G>A

1 paper

NM_001130916.3

p.M176K

c.527T>A

1 paper

NM_004612.4

p.M253T

c.758T>C

9 papers

NM_004612.4

p.M253I

c.759G>A

9 papers

NM_004612.4

p.M253I

c.759G>C

9 papers

NM_004612.4

p.M253I

c.759G>T

1 paper

NM_004612.4

p.A246T

c.736G>A

1 paper

NM_004612.4

p.L254L

c.760T>C