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

2 papers

NM_206943.4

p.L163P

c.488T>C

Surrounding Variants

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

1 paper

NM_206943.4

p.G152_S153del0

c.454_459del6

1 paper

NM_206943.4

p.S149_G150insFs

c.447_448insA

1 paper

NM_206943.4

p.S149fs

c.445_446fs

1 paper

NM_206943.4

p.S149C

c.445A>T

1 paper

NM_206943.4

p.T147I

c.440C>T

2 papers

NM_206943.4

p.E146K

c.436G>A

1 paper

NM_206943.4

p.K142Q

c.424A>C

1 paper

NM_206943.4

p.K133R

c.398A>G

1 paper

NM_206943.4

p.P130Q

c.389C>A