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

4 papers

NM_000358.3

p.V627delFs

c.1879delG

Surrounding Variants

1 paper

NM_000358.3

p.V627insFs

c.1879dupG

31 papers

NM_000358.3

p.H626P

c.1877A>C

91 papers

NM_000358.3

p.H626R

c.1877A>G

3 papers

NM_000358.3

p.V627fs

c.1879_1880fs

1 paper

NM_000358.3

p.V627fs

c.1879_1880fs

22 papers

NM_000358.3

p.V625D

c.1874T>A

3 papers

NM_000358.3

p.V625del1

c.1873_1874delGTC

2 papers

NM_000358.3

p.T629_L632ins1

c.1886_1894dup9

1 paper

NM_000358.3

p.T629ins3

c.1885_1886ins9

22 papers

NM_000358.3

p.V624M

c.1870G>A

1 paper

NM_000358.3

p.T629_N630ins3

c.1887_1888ins9

49 papers

NM_000358.3

p.G623D

c.1868G>A