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

22 papers

NM_000358.3

p.L509P

c.1526T>C

Surrounding Variants

24 papers

NM_000358.3

p.L509R

c.1526T>G

1 paper

NM_000358.3

p.M506ins4

c.1517_1518ins12

26 papers

NM_000358.3

p.V505D

c.1514T>A

1 paper

NM_000358.3

p.V505I

c.1513G>A

12 papers

NM_000358.3

p.R514P

c.1541G>C

13 papers

NM_000358.3

p.F515L

c.1543T>C

13 papers

NM_000358.3

p.F515L

c.1545T>A

13 papers

NM_000358.3

p.F515L

c.1545T>G

8 papers

NM_000358.3

p.S516R

c.1546A>C

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