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.M1I

c.3G>C

Surrounding Variants

1 paper

NM_000428.3

p.M1I

c.3G>T

1 paper

NM_000428.3

p.M1insFs

c.2dupT

1 paper

NM_000428.3

p.M1delins

c.3delinsTTTTAGATCCATATTTTAG

1 paper

NM_000428.3

p.M1T

c.2T>C

1 paper

NM_000428.3

p.M1V

c.1A>G

1 paper

NM_000428.3

p.P3delFs

c.8delG

1 paper

NM_000428.3

p.R4W

c.10C>T

1 paper

NM_000428.3

p.R4P

c.11G>C

1 paper

NM_000428.3

p.G11E

c.32G>A

1 paper

NM_000428.3

p.R12C

c.34C>T

1 paper

NM_000428.3

p.L24R

c.71T>G

1 paper

NM_000428.3

p.H34Y

c.100C>T