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.M269I

c.807G>T

Surrounding Variants

1 paper

NM_206943.4

p.M269I

c.807G>A

1 paper

NM_206943.4

p.M269I

c.807G>C

1 paper

NM_206943.4

p.M269R

c.806T>G

1 paper

NM_206943.4

p.K274T

c.821A>C

1 paper

NM_206943.4

p.P275L

c.824C>T

1 paper

NM_206943.4

p.P261Q

c.782C>A

1 paper

NM_206943.4

p.S254P

c.760T>C

1 paper

NM_206943.4

p.Q288P

c.863A>C

3 papers

NM_206943.4

p.E246K

c.736G>A

1 paper

NM_206943.4

p.S241L

c.722C>T

1 paper

NM_206943.4

p.A239T

c.715G>A

1 paper

NM_206943.4

p.G237E

c.710G>A