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.S94fs

c.280_281fs

Surrounding Variants

1 paper

NM_000428.3

p.G93insFs

c.278_279dupGG

1 paper

NM_000428.3

p.W92L

c.275G>T

1 paper

NM_000428.3

p.E102K

c.304G>A

1 paper

NM_000428.3

p.P106Q

c.317C>A

1 paper

NM_000428.3

p.V79delFs

c.237delG

1 paper

NM_000428.3

p.Q110*

c.328C>T

1 paper

NM_000428.3

p.A77T

c.229G>A

12 papers

NM_000428.3

p.Q111*

c.331C>T

1 paper

NM_000428.3

p.P106_Q111del6

c.316_332del18

2 papers

NM_000428.3

p.E74Q

c.220G>C

1 paper

NM_000428.3

p.S70G

c.208A>G

4 papers

NM_000428.3

p.A119S

c.355G>T