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

16 papers

NM_000358.3

p.I522N

c.1565T>A

Surrounding Variants

2 papers

NM_000358.3

p.S524C

c.1571C>G

2 papers

NM_000358.3

p.A525T

c.1573G>A

2 papers

NM_000358.3

p.V519delins

c.1556delinsGAGG

55 papers

NM_000358.3

p.L518P

c.1553T>C

15 papers

NM_000358.3

p.L518R

c.1553T>G

70 papers

NM_000358.3

p.L527R

c.1580T>G

2 papers

NM_000358.3

p.S516R

c.1548C>G

1 paper

NM_000358.3

p.T528T

c.1584G>A

1 paper

NM_000358.3

p.E529K

c.1585G>A

1 paper

NM_000358.3

p.R533Q

c.1598G>A

10 papers

NM_000358.3

p.G535*

c.1603G>T

23 papers

NM_000358.3

p.T538P

c.1612A>C