Varaico: Literature-Extracted Genetic Variants

TGFBI

622 papers

RefSeq Summary

This gene encodes an RGD-containing protein that binds to type I, II and IV collagens. The RGD motif is found in many extracellular matrix proteins modulating cell adhesion and serves as a ligand reco...

Pfam Domains

Fasciclinaa 114–238UCSCFasciclin domain

Fasciclinaa 251–373UCSCFasciclin domain

Fasciclinaa 386–500UCSCFasciclin domain

Fasciclinaa 513–634UCSCFasciclin domain

Gene Aliases

HGNC Name

transforming growth factor beta induced

HGNC Previous Symbols

CSD3; LCD1; CSD1; CSD2

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_000358.3

p.C473_A480del8

c.1417_1439del24

Surrounding Variants

9 papers

NM_000358.3

p.L472L

c.1416C>T

5 papers

NM_000358.3

p.N470_S471Splc

c.1411-3C>T

1 paper

NM_000358.3

p.C478*

c.1434C>A

1 paper

NM_000358.3

p.A480T

c.1438G>A

1 paper

NM_000358.3

p.A480V

c.1439C>T

1 paper

NM_000358.3

p.D483N

c.1447G>A

5 papers

NM_000358.3

p.N470_S471Splc

c.1411-43A>G

1 paper

NM_000358.3

p.F492_T493ins8

c.1474_1478ins24

1 paper

NM_000358.3

p.T493T

c.1479G>A

1 paper

NM_000358.3

p.M494insFs

c.1481_1482ins4

4 papers

NM_000358.3

p.R496G

c.1486C>G

9 papers

NM_000358.3

p.R496W

c.1486C>T