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.I320L

c.958A>C

Surrounding Variants

1 paper

NM_004612.4

p.E319G

c.956A>G

1 paper

NM_004612.4

p.M318I

c.954G>C

1 paper

NM_004612.4

p.M318K

c.953T>A

33 papers

NM_004612.4

p.M318R

c.953T>G

2 papers

NM_004612.4

p.G322_G325del0

c.965_973del9

1 paper

NM_004612.4

p.M318L

c.952A>C

1 paper

NM_004612.4

p.M318L

c.952A>T

1 paper

NM_004612.4

p.H317Q

c.951C>A

1 paper

NM_004612.4

p.H317Q

c.951C>G

1 paper

NM_004612.4

p.G322D

c.965G>A

1 paper

NM_004612.4

p.G322A

c.965G>C

1 paper

NM_004612.4

p.Q324K

c.970C>A