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.P512delFs

c.1535delG

Surrounding Variants

1 paper

NM_000428.3

p.P512fs

c.1534_1535fs

1 paper

NM_000428.3

p.P513T

c.1537C>A

1 paper

NM_000428.3

p.T509delFs

c.1525delT

4 papers

NM_000428.3

p.S518I

c.1553G>T

2 papers

NM_000428.3

p.S526N

c.1577G>A

1 paper

NM_000428.3

p.G496D

c.1487G>A

3 papers

NM_000428.3

p.R495Q

c.1484G>A

1 paper

NM_000428.3

p.A531T

c.1591G>A

1 paper

NM_000428.3

p.R538fs

c.1612_1613fs

4 papers

NM_000428.3

p.R538W

c.1612C>T

1 paper

NM_000428.3

p.P481P

c.1443A>G

1 paper

NM_000428.3

p.A544T

c.1630G>A