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.G44delFs

c.132delC

Surrounding Variants

7 papers

NM_001130144.3

p.P45fs

c.133_134fs

1 paper

NM_001130144.3

p.P45Q

c.134C>A

1 paper

NM_001130144.3

p.E42A

c.125A>C

1 paper

NM_001130144.3

p.E48*

c.142G>T

1 paper

NM_001130144.3

p.G50V

c.149G>T

1 paper

NM_001130144.3

p.A51T

c.151G>A

1 paper

NM_001130144.3

p.A51G

c.152C>G

1 paper

NM_001130144.3

p.G53R

c.157G>C

1 paper

NM_001130144.3

p.G53R

c.157G>A

1 paper

NM_001130144.3

p.G53fs

c.157_158fs

2 papers

NM_001130144.3

p.L35del1

c.103_105delCAG

1 paper

NM_001130144.3

p.L34_L35del0

c.100_105del6