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

75 papers

NM_000358.3

p.P501T

c.1501C>A

Surrounding Variants

1 paper

NM_000358.3

p.P501A

c.1501C>G

3 papers

NM_000358.3

p.P501S

c.1501C>T

17 papers

NM_000358.3

p.M502V

c.1504A>G

1 paper

NM_000358.3

p.M502fs

c.1504_1505fs

1 paper

NM_000358.3

p.M502I

c.1506G>A

1 paper

NM_000358.3

p.M502I

c.1506G>C

1 paper

NM_000358.3

p.M502I

c.1506G>T

1 paper

NM_000358.3

p.P501insFs

c.1502dupC

1 paper

NM_000358.3

p.V505I

c.1513G>A

26 papers

NM_000358.3

p.V505D

c.1514T>A

4 papers

NM_000358.3

p.R496G

c.1486C>G

9 papers

NM_000358.3

p.R496W

c.1486C>T