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

59 papers

NM_000358.3

p.A546T

c.1636G>A

Surrounding Variants

68 papers

NM_000358.3

p.A546D

c.1637C>A

1 paper

NM_000358.3

p.A546V

c.1637C>T

1 paper

NM_000358.3

p.E545K

c.1633G>A

10 papers

NM_000358.3

p.F547S

c.1640T>C

1 paper

NM_000358.3

p.N544N

c.1632T>C

4 papers

NM_000358.3

p.F547C

c.1640T>G

30 papers

NM_000358.3

p.N544S

c.1631A>G

1 paper

NM_000358.3

p.R548Q

c.1643G>A

3 papers

NM_000358.3

p.R548P

c.1643G>C

7 papers

NM_000358.3

p.A549T

c.1645G>A

10 papers

NM_000358.3

p.P542R

c.1625C>G

1 paper

NM_000358.3

p.P542L

c.1625C>T