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.S104fs

c.310_311fs

Surrounding Variants

1 paper

NM_000358.3

p.L103R

c.308T>G

5 papers

NM_000358.3

p.L103delFs

c.307_308delCT

1 paper

NM_000358.3

p.Y107C

c.320A>G

1 paper

NM_000358.3

p.A100Splc

c.299-1G>C

1 paper

NM_000358.3

p.V112V

c.336C>T

19 papers

NM_000358.3

p.V113I

c.337G>A

1 paper

NM_000358.3

p.V113F

c.337G>T

1 paper

NM_000358.3

p.T116_T118delins

c.347_353delinsT

2 papers

NM_000358.3

p.T118I

c.353C>T

1 paper

NM_000358.3

p.T122M

c.365C>T

18 papers

NM_000358.3

p.D123H

c.367G>C

43 papers

NM_000358.3

p.R124S

c.370C>A