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

236 papers

NM_000358.3

p.R124C

c.370C>T

Surrounding Variants

43 papers

NM_000358.3

p.R124S

c.370C>A

251 papers

NM_000358.3

p.R124H

c.371G>A

145 papers

NM_000358.3

p.R124L

c.371G>T

3 papers

NM_000358.3

p.R124_E126delins

c.371_378delinsTC

1 paper

NM_000358.3

p.R124R

c.372C>A

3 papers

NM_000358.3

p.T125_E126del0

c.373_378del6

18 papers

NM_000358.3

p.D123H

c.367G>C

1 paper

NM_000358.3

p.T125R

c.374C>G

3 papers

NM_000358.3

p.E126del1

c.376_377delGAG

1 paper

NM_000358.3

p.T122M

c.365C>T

1 paper

NM_000358.3

p.E126K

c.376G>A

1 paper

NM_000358.3

p.L128L

c.384G>A