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.L26P

c.77T>C

Surrounding Variants

3 papers

NM_001130144.3

p.A25del1

c.73_74delCGC

1 paper

NM_001130144.3

p.A25E

c.74C>A

1 paper

NM_001130144.3

p.L24L

c.72G>T

1 paper

NM_001130144.3

p.L24_A25insFs

c.72_73insT

1 paper

NM_001130144.3

p.G22A

c.65G>C

1 paper

NM_001130144.3

p.A18delFs

c.52delC

1 paper

NM_001130144.3

p.A18fs

c.52_53fs

1 paper

NM_001130144.3

p.L35_G36ins1

c.105_106insCTG

2 papers

NM_001130144.3

p.L35_G36ins2

c.105_106ins6

2 papers

NM_001130144.3

p.L35del1

c.103_105delCAG

1 paper

NM_001130144.3

p.L34_L35del0

c.100_105del6

1 paper

NM_001130144.3

p.A12delFs

c.35delG