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

197 papers

NM_000358.3

p.R555W

c.1663C>T

Surrounding Variants

143 papers

NM_000358.3

p.R555Q

c.1664G>A

1 paper

NM_000358.3

p.R555L

c.1664G>T

2 papers

NM_000358.3

p.S556insFs

c.1666_1667insC

16 papers

NM_000358.3

p.L558P

c.1673T>C

6 papers

NM_000358.3

p.L558R

c.1673T>G

43 papers

NM_000358.3

p.P551Q

c.1652C>A

1 paper

NM_000358.3

p.P551T

c.1651C>A

8 papers

NM_000358.3

p.L559V

c.1675T>G

15 papers

NM_000358.3

p.L550P

c.1649T>C

7 papers

NM_000358.3

p.A549T

c.1645G>A

1 paper

NM_000358.3

p.R548Q

c.1643G>A

3 papers

NM_000358.3

p.R548P

c.1643G>C