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

23 papers

NM_000358.3

p.T538P

c.1612A>C

Surrounding Variants

1 paper

NM_000358.3

p.T538K

c.1613C>A

22 papers

NM_000358.3

p.T538R

c.1613C>G

19 papers

NM_000358.3

p.V539D

c.1616T>A

8 papers

NM_000358.3

p.F540del1

c.1618_1619delTTT

19 papers

NM_000358.3

p.F540S

c.1619T>C

17 papers

NM_000358.3

p.F540F

c.1620T>C

10 papers

NM_000358.3

p.G535*

c.1603G>T

10 papers

NM_000358.3

p.P542R

c.1625C>G

1 paper

NM_000358.3

p.P542L

c.1625C>T

1 paper

NM_000358.3

p.R533Q

c.1598G>A

30 papers

NM_000358.3

p.N544S

c.1631A>G

1 paper

NM_000358.3

p.N544N

c.1632T>C