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.K264Q

c.790A>C

Surrounding Variants

1 paper

NM_001164266.1

p.H141Y

c.421C>T

1 paper

NM_001130144.3

p.E251K

c.751G>A

1 paper

NM_001130144.3

p.A250A

c.750C>G

1 paper

NM_001130144.3

p.R278H

c.833G>A

1 paper

NM_001130144.3

p.E246K

c.736G>A

1 paper

NM_001130144.3

p.L284_P285ins1

c.852_853insAGG

1 paper

NM_001130144.3

p.Q241P

c.722A>C

3 papers

NM_001130144.3

p.V230delFs

c.689_690delCA

3 papers

NM_001130144.3

p.V230fs

c.688_689fs

1 paper

NM_001130144.3

p.P226insFs

c.678dupC

1 paper

NM_001130144.3

p.P226L

c.677C>T

1 paper

NM_001130144.3

p.G290S

c.868G>A