Varaico: Literature-Extracted Genetic Variants

LTBP2

310 papers

RefSeq Summary

The protein encoded by this gene belongs to the family of latent transforming growth factor (TGF)-beta binding proteins (LTBP), which are extracellular matrix proteins with multi-domain structure. Thi...

Pfam Domains

TBaa 561–599UCSCTB domain

EGF_CAaa 622–661UCSCCalcium-binding EGF domain

TBaa 681–724UCSCTB domain

EGF_CAaa 844–885UCSCCalcium-binding EGF domain

EGF_CAaa 887–928UCSCCalcium-binding EGF domain

EGF_CAaa 930–968UCSCCalcium-binding EGF domain

Gene Aliases

HGNC Name

latent transforming growth factor beta binding protein 2

HGNC Previous Symbol

C14orf141

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_000428.3

p.P156_T157insFs

c.468_469insG

Surrounding Variants

1 paper

NM_000428.3

p.T157fs

c.469_470fs

1 paper

NM_000428.3

p.T157delFs

c.469delT

1 paper

NM_000428.3

p.R160Q

c.479G>A

1 paper

NM_000428.3

p.P140A

c.418C>G

1 paper

NM_000428.3

p.A138fs

c.412_413fs

8 papers

NM_000428.3

p.A138delFs

c.412delC

1 paper

NM_000428.3

p.A138P

c.412G>C

2 papers

NM_000428.3

p.A138fs

c.412_413fs

1 paper

NM_000428.3

p.R137W

c.409C>T

1 paper

NM_000428.3

p.Q131K

c.391C>A

1 paper

NM_000428.3

p.Q130*

c.388C>T

1 paper

NM_000428.3

p.G128D

c.383G>A