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.C1804G

c.5410T>G

Surrounding Variants

2 papers

NM_000428.3

p.P1806L

c.5417C>T

1 paper

NM_000428.3

p.R1801H

c.5402G>A

1 paper

NM_000428.3

p.G1798S

c.5392G>A

2 papers

NM_000428.3

p.T1796_E1797insC

c.5386_5390ins3

3 papers

NM_000428.3

p.G1813_P1814insFs

c.5439_5440insA

1 paper

NM_000428.3

p.E1794K

c.5380G>A

1 paper

NM_000428.3

p.P1814insFs

c.5440_5441insA

1 paper

NM_000428.3

p.P1814fs

c.5440_5441fs

8 papers

NM_000428.3

p.Y1792delFs

c.5376delG

2 papers

NM_000428.3

p.H1816fs

c.5446_5447fs

1 paper

NM_000428.3

p.H1816P

c.5447A>C

10 papers

NM_000428.3

p.H1816insFs

c.5446dupC