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

5 papers

NM_001130144.3

p.Q141*

c.421C>T

Surrounding Variants

1 paper

NM_001130144.3

p.A147V

c.440C>T

1 paper

NM_001130144.3

p.D134N

c.400G>A

1 paper

NM_001130144.3

p.G152S

c.454G>A

1 paper

NM_001130144.3

p.G153D

c.458G>A

1 paper

NM_001130144.3

p.P116L

c.347C>T

1 paper

NM_001130144.3

p.A168T

c.502G>A

1 paper

NM_001130144.3

p.C113Y

c.338G>A

1 paper

NM_001130144.3

p.L169M

c.505C>A

1 paper

NM_001130144.3

p.D193Y

c.577G>T

1 paper

NM_001130144.3

p.P195L

c.584C>T

2 papers

NM_001130144.3

p.L209fs

c.625_626fs

1 paper

NM_001130144.3

p.L209insFs

c.625dupC