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.D660Splc

c.1978+35G>A

Surrounding Variants

1 paper

NM_001130144.3

p.R656fs

c.1966_1967fs

1 paper

NM_001130144.3

p.R656H

c.1967G>A

2 papers

NM_001130144.3

p.G655delFs

c.1965delC

2 papers

NM_001130144.3

p.R656fs

c.1966_1967fs

1 paper

NM_001130144.3

p.A653V

c.1958C>T

1 paper

NM_001130144.3

p.H650L

c.1949A>T

1 paper

NM_001130144.3

p.D660Splc

c.1979-11C>G

2 papers

NM_001130144.3

p.G673C

c.2017G>T

1 paper

NM_001130144.3

p.G628A

c.1883G>C

1 paper

NM_001130144.3

p.G681Fs

c.2041delinsCTTFs

3 papers

NM_001130144.3

p.N678_G681delins

c.2033_2041delinsCTT

1 paper

NM_001130144.3

p.C620W

c.1860C>G