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.C186F

c.557G>T

Surrounding Variants

1 paper

NM_206943.4

p.R185R

c.553A>C

1 paper

NM_206943.4

p.R185W

c.553A>T

1 paper

NM_206943.4

p.Q184Q

c.552G>A

1 paper

NM_206943.4

p.W177R

c.529T>C

1 paper

NM_206943.4

p.W177G

c.529T>G

3 papers

NM_206943.4

p.G171R

c.511G>A

2 papers

NM_206943.4

p.G171R

c.511G>C

1 paper

NM_206943.4

p.G165Splc

c.495-2A>G

2 papers

NM_206943.4

p.L163P

c.488T>C

1 paper

NM_206943.4

p.Q161R

c.482A>G

1 paper

NM_206943.4

p.R154G

c.460A>G

1 paper

NM_206943.4

p.S153A

c.457T>G