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.M132L

c.394A>T

Surrounding Variants

4 papers

NM_000358.3

p.E131D

c.393G>C

5 papers

NM_000358.3

p.E131D

c.393G>T

1 paper

NM_000358.3

p.R129R

c.387G>A

1 paper

NM_000358.3

p.L128L

c.384G>A

2 papers

NM_000358.3

p.P135P

c.405C>T

1 paper

NM_000358.3

p.S137delFs

c.409delA

1 paper

NM_000358.3

p.E126K

c.376G>A

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.R124R

c.372C>A

3 papers

NM_000358.3

p.T125_E126del0

c.373_378del6

4 papers

NM_000358.3

p.T139T

c.417C>A