Varaico: Literature-Extracted Genetic Variants

LTBP4

122 papers

RefSeq Summary

The protein encoded by this gene binds transforming growth factor beta (TGFB) as it is secreted and targeted to the extracellular matrix. TGFB is biologically latent after secretion and insertion into...

Pfam Domains

EGF_CAaa 357–396UCSCCalcium-binding EGF domain

TBaa 416–459UCSCTB domain

hEGFaa 556–576UCSCHuman growth factor-like EGF

Gene Aliases

HGNC Name

latent transforming growth factor beta binding protein 4

HGNC Alias Symbols

LTBP-4; LTBP-4L; FLJ46318; FLJ90018

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

4 papers

NM_003573.2

p.C857delins

c.2570_2571delinsAA

Surrounding Variants

5 papers

NM_003573.2

p.C857*

c.2571C>A

3 papers

NM_003573.2

p.G878*

c.2632G>T

1 paper

NM_001042545.2

p.D811N

c.2431G>A

3 papers

NM_001042544.1

p.D878Y

c.2632G>T

3 papers

NM_001042545.2

p.S803*

c.2408C>A

4 papers

NM_001042545.2

p.C793insFs

c.2377_2378insA

1 paper

NM_003573.2

p.R822_S824delFs

c.2466_2470del5

1 paper

NM_001042545.2

p.S790S

c.2370C>T

15 papers

NM_001042545.2

p.T787A

c.2359A>G

4 papers

NM_003573.2

p.S803*

c.2408C>A

4 papers

NM_001042545.2

p.C857delins

c.2570_2571delinsAA

5 papers

NM_001042545.2

p.C857*

c.2571C>A