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.A412G

c.1235C>G

Surrounding Variants

1 paper

NM_004612.4

p.A412T

c.1234G>A

1 paper

NM_004612.4

p.A412P

c.1234G>C

3 papers

NM_004612.4

p.R413*

c.1237C>T

3 papers

NM_004612.4

p.R413Q

c.1238G>A

1 paper

NM_004612.4

p.I411T

c.1232T>C

6 papers

NM_004612.4

p.R414*

c.1240C>T

1 paper

NM_004612.4

p.R414Q

c.1241G>A

1 paper

NM_004612.4

p.R414insFs

c.1242dupA

1 paper

NM_004612.4

p.W409*

c.1227G>A

1 paper

NM_004612.4

p.W409*

c.1226G>A

1 paper

NM_004612.4

p.C415_S416delFs

c.1245_1248del4

1 paper

NM_004612.4

p.W409G

c.1225T>G