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

1–12 of 390 variants

251 papers

NM_000358.3

p.R124H

c.371G>A

236 papers

NM_000358.3

p.R124C

c.370C>T

197 papers

NM_000358.3

p.R555W

c.1663C>T

145 papers

NM_000358.3

p.R124L

c.371G>T

143 papers

NM_000358.3

p.R555Q

c.1664G>A

91 papers

NM_000358.3

p.H626R

c.1877A>G

75 papers

NM_000358.3

p.P501T

c.1501C>A

70 papers

NM_000358.3

p.L527R

c.1580T>G

68 papers

NM_000358.3

p.A546D

c.1637C>A

59 papers

NM_000358.3

p.A546T

c.1636G>A

55 papers

NM_000358.3

p.L518P

c.1553T>C

49 papers

NM_000358.3

p.G623D

c.1868G>A