Varaico: Literature-Extracted Genetic Variants

LTBP1

193 papers

RefSeq Summary

The protein encoded by this gene belongs to the family of latent TGF-beta binding proteins (LTBPs). The secretion and activation of TGF-betas is regulated by their association with latency-associated ...

Pfam Domains

hEGFaa 81–99UCSCHuman growth factor-like EGF

TBaa 240–284UCSCTB domain

EGF_CAaa 300–339UCSCCalcium-binding EGF domain

TBaa 361–403UCSCTB domain

EGF_CAaa 547–587UCSCCalcium-binding EGF domain

TBaa 566–610UCSCTB domain

Gene Aliases

HGNC Name

latent transforming growth factor beta binding protein 1

HGNC Alias Names

TGF-beta1-BP-1; Transforming growth factor beta-1-binding protein 1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_206943.4

p.P34L

c.101C>T

Surrounding Variants

1 paper

NM_206943.4

p.A40T

c.118G>A

1 paper

NM_206943.4

p.L25L

c.75G>C

1 paper

NM_206943.4

p.S20W

c.59C>G

1 paper

NM_206943.4

p.S20delFs

c.59delC

1 paper

NM_206943.4

p.R52Q

c.155G>A

1 paper

NM_206943.4

p.F54L

c.162C>G

1 paper

NM_206943.4

p.L12I

c.34C>A

1 paper

NM_206943.4

p.L10P

c.29T>C

1 paper

NM_206943.4

p.L10_L12ins1

c.28_36dup9

1 paper

NM_206943.4

p.G9R

c.25G>A

1 paper

NM_206943.4

p.A60G

c.179C>G

1 paper

NM_206943.4

p.R7K

c.20G>A