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.Q1167*

c.3499C>T

Surrounding Variants

1 paper

NM_000428.3

p.C1151Y

c.3452G>A

1 paper

NM_000428.3

p.C1146G

c.3436T>G

5 papers

NM_000428.3

p.Q1143delFs

c.3427delG

4 papers

NM_000428.3

p.Q1143fs

c.3427_3428fs

1 paper

NM_000428.3

p.D1176Splc

c.3527-3C>A

4 papers

NM_000428.3

p.V1177M

c.3529G>A

1 paper

NM_000428.3

p.E1179*

c.3535G>T

1 paper

NM_000428.3

p.M1181fs

c.3541_3542fs

2 papers

NM_000428.3

p.M1181delFs

c.3542delA

2 papers

NM_000428.3

p.E1191K

c.3571G>A

1 paper

NM_000428.3

p.L1193_N1194insFs

c.3578_3581dup4

1 paper

NM_000428.3

p.C1201Y

c.3602G>A