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.T125S

c.374C>G

Surrounding Variants

1 paper

NM_000428.3

p.P126insFs

c.376_377insA

1 paper

NM_000428.3

p.G128D

c.383G>A

1 paper

NM_000428.3

p.Q130*

c.388C>T

1 paper

NM_000428.3

p.Q120*

c.358C>T

1 paper

NM_000428.3

p.Q131K

c.391C>A

4 papers

NM_000428.3

p.A119S

c.355G>T

1 paper

NM_000428.3

p.Q116_P118del0

c.346_354del9

1 paper

NM_000428.3

p.R137W

c.409C>T

1 paper

NM_000428.3

p.A138P

c.412G>C

2 papers

NM_000428.3

p.A138fs

c.412_413fs

8 papers

NM_000428.3

p.A138delFs

c.412delC

1 paper

NM_000428.3

p.P106_Q111del6

c.316_332del18