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

5 papers

NM_000428.3

p.C1438Y

c.4313G>A

Surrounding Variants

1 paper

NM_000428.3

p.G1441D

c.4322G>A

1 paper

NM_000428.3

p.D1446E

c.4338T>A

3 papers

NM_000428.3

p.R1429Q

c.4286G>A

2 papers

NM_000428.3

p.A1447delFs

c.4339delC

4 papers

NM_000428.3

p.Q1417R

c.4250A>G

2 papers

NM_000428.3

p.C1413_G1416delFs

c.4238_4247del10

1 paper

NM_000428.3

p.C1413G

c.4237T>G

1 paper

NM_000428.3

p.R1410H

c.4229G>A

1 paper

NM_000428.3

p.T1401T

c.4203G>A

1 paper

NM_000428.3

p.T1401M

c.4202C>T

1 paper

NM_000428.3

p.P1400Q

c.4199C>A

1 paper

NM_000428.3

p.A1457Splc

c.4370-5C>G