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

9 papers

NM_000428.3

p.S472delFs

c.1415delG

Surrounding Variants

1 paper

NM_000428.3

p.S472fs

c.1414_1415fs

1 paper

NM_000428.3

p.S472fs

c.1414_1415fs

1 paper

NM_000428.3

p.S468_V469insG

c.1402_1406ins3

2 papers

NM_000428.3

p.H479R

c.1436A>G

1 paper

NM_000428.3

p.P481P

c.1443A>G

1 paper

NM_000428.3

p.A467Splc

c.1400-33T>C

3 papers

NM_000428.3

p.R495Q

c.1484G>A

1 paper

NM_000428.3

p.G496D

c.1487G>A

1 paper

NM_000428.3

p.T509delFs

c.1525delT

1 paper

NM_000428.3

p.P512fs

c.1534_1535fs

1 paper

NM_000428.3

p.P512delFs

c.1535delG

1 paper

NM_000428.3

p.P513T

c.1537C>A