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.P88L

c.263C>T

Surrounding Variants

1 paper

NM_004612.4

p.A87_P88delFs

c.261_262delAC

1 paper

NM_004612.4

p.S90_G93del4

c.268_278del12

1 paper

NM_004612.4

p.S90_K91insFs

c.270_271dupAA

1 paper

NM_004612.4

p.S90_T92delFs

c.270_276del7

1 paper

NM_004612.4

p.C86F

c.257G>T

1 paper

NM_004612.4

p.V85V

c.255A>G

1 paper

NM_004612.4

p.V85I

c.253G>A

1 paper

NM_004612.4

p.G93R

c.277G>A

10 papers

NM_004612.4

p.P83L

c.248C>T

1 paper

NM_004612.4

p.P83S

c.247C>T

2 papers

NM_004612.4

p.V95A

c.284T>C

1 paper

NM_004612.4

p.T96P

c.286A>C