Varaico: Literature-Extracted Genetic Variants

LTBP3

169 papers

RefSeq Summary

The protein encoded by this gene forms a complex with transforming growth factor beta (TGF-beta) proteins and may be involved in their subcellular localization. Activation of this complex requires rem...

Pfam Domains

hEGFaa 117–135UCSCHuman growth factor-like EGF

TBaa 288–329UCSCTB domain

EGF_CAaa 355–394UCSCCalcium-binding EGF domain

TBaa 413–455UCSCTB domain

cEGFaa 596–619UCSCComplement Clr-like EGF-like

EGF_CAaa 660–701UCSCCalcium-binding EGF domain

Gene Aliases

HGNC Name

latent transforming growth factor beta binding protein 3

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001130144.3

p.D826Splc

c.2477-11A>T

Surrounding Variants

1 paper

NM_001130144.3

p.F832delFs

c.2495delA

1 paper

NM_001130144.3

p.A835_C836delFs

c.2505_2506delAG

1 paper

NM_001130144.3

p.G839_D840insFs

c.2517_2518insC

1 paper

NM_001130144.3

p.C841Y

c.2522G>A

1 paper

NM_001130144.3

p.C852_P853insAGG

c.2554_2558ins9

1 paper

NM_001164266.1

p.H739insFs

c.2216_2217insG

1 paper

NM_001130144.3

p.V859G

c.2576T>G

1 paper

NM_001130144.3

p.R862R

c.2586G>A

1 paper

NM_001130144.3

p.D820N

c.2458G>A

1 paper

NM_001130144.3

p.D796delFs

c.2388delG

2 papers

NM_001130144.3

p.V794M

c.2380G>A

1 paper

NM_001130144.3

p.V786delFs

c.2356_2357delAC